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

12 papers

NM_000122.2

p.Q545*

c.1633C>T

Surrounding Variants

1 paper

NM_000122.2

p.Q545H

c.1635G>T

1 paper

NM_000122.2

p.Q545H

c.1635G>C

1 paper

NM_000122.2

p.Q545Q

c.1635G>A

1 paper

NM_000122.2

p.C544Y

c.1631G>A

2 papers

NM_000122.2

p.F541C

c.1622T>G

1 paper

NM_000122.2

p.F541V

c.1621T>G

1 paper

NM_000122.2

p.F541L

c.1621T>C

2 papers

NM_000122.2

p.M536I

c.1608G>T

2 papers

NM_000122.2

p.M536I

c.1608G>C

2 papers

NM_000122.2

p.M536I

c.1608G>A

2 papers

NM_000122.2

p.M536T

c.1607T>C

2 papers

NM_000122.2

p.M536delins

c.1606_1607delinsCA