Table A.

Fanconi Anemia: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
BRCA1 17q21​.31 Breast cancer type 1 susceptibility protein BRCA1 homepage - LOVD
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
Breast Cancer Information Core (BRCA1)
BRCA1 @ ZAC-GGM 		BRCA1 BRCA1
BRCA2 13q13​.1 Breast cancer type 2 susceptibility protein BRCA2 homepage - LOVD
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation
Breast Cancer Information Core (BRCA2)
Fanconi Anaemia Mutation Database (FANCD1 - BRCA2)
BRCA2 @ ZAC-GGM 		BRCA2 BRCA2
BRIP1 17q23​.2 Fanconi anemia group J protein BRIP1 @ LOVD
Fanconi Anaemia Mutation Database (FANCJ - BRIP1) 		BRIP1 BRIP1
ERCC4 16p13​.12 DNA repair endonuclease XPF ERCC4 database ERCC4 ERCC4
FAAP100 17q25​.3 Fanconi anemia core complex-associated protein 100 FAAP100 FAAP100
FANCA 16q24​.3 Fanconi anemia group A protein Fanconi Anemia Mutation Database (FANCA) FANCA FANCA
FANCB Xp22​.2 Fanconi anemia group B protein FANCB @ LOVD
Fanconi Anaemia Mutation Database (FANCB) 		FANCB FANCB
FANCC 9q22​.32 Fanconi anemia group C protein Fanconi Anemia Mutation Database (FANCC) FANCC FANCC
FANCD2 3p25​.3 Fanconi anemia group D2 protein Fanconi Anaemia Mutation Database (FANCD2) FANCD2 FANCD2
FANCE 6p21​.31 Fanconi anemia group E protein Fanconi Anaemia Mutation Database (FANCE) FANCE FANCE
FANCF 11p14​.3 Fanconi anemia group F protein Fanconi Anaemia Mutation Database (FANCF) FANCF FANCF
FANCG 9p13​.3 Fanconi anemia group G protein Fanconi Anaemia Mutation Database (FANCG) FANCG FANCG
FANCI 15q26​.1 Fanconi anemia group I protein Fanconi Anemia Mutation Database (FANCI) FANCI FANCI
FANCL 2p16​.1 E3 ubiquitin-protein ligase FANCL Fanconi Anaemia Mutation Database (FANCL) FANCL FANCL
FANCM 14q21​.2 Fanconi anemia group M protein Fanconi Anaemia Mutation Database (FANCM) FANCM FANCM
MAD2L2 1p36​.22 Mitotic spindle assembly checkpoint protein MAD2B MAD2L2 MAD2L2
PALB2 16p12​.2 Partner and localizer of BRCA2 PALB2 database PALB2 PALB2
RAD51 15q15​.1 DNA repair protein RAD51 homolog 1 RAD51 database RAD51 RAD51
RAD51C 17q22 DNA repair protein RAD51 homolog 3 RAD51C @ LOVD RAD51C RAD51C
RFWD3 16q23​.1 E3 ubiquitin-protein ligase RFWD3 RFWD3 RFWD3
SLX4 16p13​.3 Structure-specific endonuclease subunit SLX4 SLX4 @ LOVD SLX4 SLX4
UBE2T 1q32​.1 Ubiquitin-conjugating enzyme E2 T UBE2T UBE2T
XRCC2 7q36​.1 DNA repair protein XRCC2 XRCC2 @ LOVD XRCC2 XRCC2

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: Fanconi Anemia

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