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.S242P

c.724T>C

Surrounding Variants

1 paper

NM_000122.2

p.D243V

c.728A>T

1 paper

NM_000122.2

p.D243G

c.728A>G

1 paper

NM_000122.2

p.G240D

c.719G>A

2 papers

NM_000122.2

p.I244L

c.730A>C

1 paper

NM_000122.2

p.P245S

c.733C>T

1 paper

NM_000122.2

p.P245L

c.734C>T

1 paper

NM_000122.2

p.P238L

c.713C>T

1 paper

NM_000122.2

p.P238S

c.712C>T

1 paper

NM_000122.2

p.M246V

c.736A>G

1 paper

NM_000122.2

p.M246I

c.738G>T

1 paper

NM_000122.2

p.M246I

c.738G>C

1 paper

NM_000122.2

p.M246I

c.738G>A