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.E288delFs

c.862delC

Surrounding Variants

1 paper

NM_000122.2

p.E288fs

c.862_863fs

1 paper

NM_000122.2

p.Y289Y

c.867C>T

1 paper

NM_000122.2

p.I285V

c.853A>G

1 paper

NM_000122.2

p.A293T

c.877G>A

2 papers

NM_000122.2

p.R283H

c.848G>A

1 paper

NM_000122.2

p.A293V

c.878C>T

10 papers

NM_000122.2

p.R283C

c.847C>T

1 paper

NM_000122.2

p.E294D

c.882A>T

1 paper

NM_000122.2

p.E294D

c.882A>C

1 paper

NM_000122.2

p.D296D

c.888C>T

1 paper

NM_000122.2

p.F297S

c.890T>C

1 paper

NM_000122.2

p.E279A

c.836A>C