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.K117E

c.349A>G

Surrounding Variants

1 paper

NM_000122.2

p.Y116*

c.348C>G

1 paper

NM_000122.2

p.Y116*

c.348C>A

2 papers

NM_000122.2

p.K117I

c.350A>T

4 papers

NM_000122.2

p.K117R

c.350A>G

1 paper

NM_000122.2

p.K117N

c.351A>T

1 paper

NM_000122.2

p.Y116C

c.347A>G

1 paper

NM_000122.2

p.K117N

c.351A>C

2 papers

NM_000122.2

p.E115D

c.345G>T

1 paper

NM_000122.2

p.E115D

c.345G>C

1 paper

NM_000122.2

p.L118L

c.354A>G

1 paper

NM_000122.2

p.T119S

c.355A>T

28 papers

NM_000122.2

p.T119P

c.355A>C