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

1–12 of 844 variants

60 papers

NM_000122.2

p.R109*

c.325C>T

43 papers

NM_000122.2

p.F99S

c.296T>C

28 papers

NM_000122.2

p.T119P

c.355A>C

23 papers

NM_000122.2

p.R425*

c.1273C>T

19 papers

NM_000122.2

p.S704L

c.2111C>T

14 papers

NM_000122.2

p.V471I

c.1411G>A

14 papers

NM_000122.2

p.D474insFs

c.1421dupA

12 papers

NM_000122.2

p.Q545*

c.1633C>T

11 papers

NM_000122.2

p.K346R

c.1037A>G

10 papers

NM_000122.2

p.R283C

c.847C>T

10 papers

NM_000122.2

p.A694T

c.2080G>A

9 papers

NM_000122.2

p.E263_E264del1

c.789_791delTCT