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.M494T

c.1481T>C

Surrounding Variants

1 paper

NM_000122.2

p.M494I

c.1482G>T

1 paper

NM_000122.2

p.M494I

c.1482G>C

1 paper

NM_000122.2

p.M494I

c.1482G>A

1 paper

NM_000122.2

p.M494V

c.1480A>G

1 paper

NM_000122.2

p.E490G

c.1469A>G

3 papers

NM_000122.2

p.E490K

c.1468G>A

1 paper

NM_000122.2

p.N499D

c.1495A>G

1 paper

NM_000122.2

p.Y489C

c.1466A>G

2 papers

NM_000122.2

p.N499K

c.1497T>G

2 papers

NM_000122.2

p.N499K

c.1497T>A

1 paper

NM_000122.2

p.Y501C

c.1502A>G

1 paper

NM_000122.2

p.K487T

c.1460A>C