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.H461L

c.1382A>T

Surrounding Variants

1 paper

NM_000122.2

p.C462R

c.1384T>C

1 paper

NM_000122.2

p.C462Y

c.1385G>A

1 paper

NM_000122.2

p.A460T

c.1378G>A

1 paper

NM_000122.2

p.V458M

c.1372G>A

1 paper

NM_000122.2

p.G465V

c.1394G>T

3 papers

NM_000122.2

p.I457V

c.1369A>G

1 paper

NM_000122.2

p.V454G

c.1361T>G

3 papers

NM_000122.2

p.T469A

c.1405A>G

9 papers

NM_000122.2

p.R452*

c.1354C>T

1 paper

NM_000122.2

p.V471F

c.1411G>T

14 papers

NM_000122.2

p.V471I

c.1411G>A

1 paper

NM_000122.2

p.R472C

c.1414C>T