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.S226S

c.678C>T

Surrounding Variants

1 paper

NM_000122.2

p.S227R

c.681T>G

1 paper

NM_000122.2

p.E225K

c.673G>A

1 paper

NM_000122.2

p.A224V

c.671C>T

1 paper

NM_000122.2

p.A224D

c.671C>A

1 paper

NM_000122.2

p.I220_T223delFs

c.659_668del10

1 paper

NM_000122.2

p.K222K

c.666G>A

1 paper

NM_000122.2

p.K222R

c.665A>G

1 paper

NM_000122.2

p.K222Q

c.664A>C

6 papers

NM_000122.2

p.T232S

c.694A>T

2 papers

NM_000122.2

p.T232A

c.694A>G

1 paper

NM_000122.2

p.S221fs

c.661_662fs

1 paper

NM_000122.2

p.I220insFs

c.659_660insA