Varaico: Literature-Extracted Genetic Variants

ERCC3

594 papers

RefSeq Summary

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in...

Pfam Domains

Helicase_C_3aa 76–203UCSCHelicase conserved C-terminal domain

ResIIIaa 313–472UCSCType III restriction enzyme, res subunit

ERCC3_RAD25_Caa 496–743UCSCERCC3/RAD25/XPB C-terminal helicase

Gene Aliases

HGNC Name

ERCC excision repair 3, TFIIH core complex helicase subunit

HGNC Alias Symbols

XPB; BTF2; RAD25; Ssl2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_000122.2

p.K346R

c.1037A>G

Surrounding Variants

1 paper

NM_000122.2

p.K346E

c.1036A>G

1 paper

NM_000122.2

p.L348L

c.1042C>T

1 paper

NM_000122.2

p.L348P

c.1043T>C

1 paper

NM_000122.2

p.G343S

c.1027G>A

1 paper

NM_000122.2

p.G350G

c.1050T>A

1 paper

NM_000122.2

p.V351V

c.1053G>C

1 paper

NM_000122.2

p.T352S

c.1055C>G

1 paper

NM_000122.2

p.T352insFs

c.1054dupA

1 paper

NM_000122.2

p.A353T

c.1057G>A

1 paper

NM_000122.2

p.G343Splc

c.1028-13T>C

1 paper

NM_000122.2

p.A354G

c.1061C>G

1 paper

NM_000122.2

p.A354E

c.1061C>A