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

1 paper

NM_000122.2

p.T111_H112del2

c.331_335del6

Surrounding Variants

1 paper

NM_000122.2

p.H112insFs

c.335dupA

1 paper

NM_000122.2

p.V113A

c.338T>C

1 paper

NM_000122.2

p.P106_T111del6

c.316_332del18

1 paper

NM_000122.2

p.T111fs

c.331_332fs

1 paper

NM_000122.2

p.T111A

c.331A>G

2 papers

NM_000122.2

p.E115D

c.345G>T

1 paper

NM_000122.2

p.E115D

c.345G>C

1 paper

NM_000122.2

p.P110T

c.328C>A

1 paper

NM_000122.2

p.Y116C

c.347A>G

1 paper

NM_000122.2

p.Y116*

c.348C>G

1 paper

NM_000122.2

p.Y116*

c.348C>A

60 papers

NM_000122.2

p.R109*

c.325C>T