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

2 papers

NM_000122.2

p.I401V

c.1201A>G

Surrounding Variants

1 paper

NM_000122.2

p.I401T

c.1202T>C

6 papers

NM_000122.2

p.G402C

c.1204G>T

1 paper

NM_000122.2

p.G402S

c.1204G>A

1 paper

NM_000122.2

p.K399R

c.1196A>G

1 paper

NM_000122.2

p.C403Y

c.1208G>A

1 paper

NM_000122.2

p.C403delFs

c.1209delG

1 paper

NM_000122.2

p.V405I

c.1213G>A

1 paper

NM_000122.2

p.A406T

c.1216G>A

3 papers

NM_000122.2

p.D395N

c.1183G>A

1 paper

NM_000122.2

p.I407S

c.1220T>G

2 papers

NM_000122.2

p.R391W

c.1171C>T

1 paper

NM_000122.2

p.C390S

c.1169G>C