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.G82V

c.245G>T

Surrounding Variants

2 papers

NM_000122.2

p.G82A

c.245G>C

2 papers

NM_000122.2

p.G82D

c.245G>A

1 paper

NM_000122.2

p.G82R

c.244G>C

2 papers

NM_000122.2

p.H83R

c.248A>G

1 paper

NM_000122.2

p.H83P

c.248A>C

1 paper

NM_000122.2

p.H83Q

c.249T>G

1 paper

NM_000122.2

p.H83Q

c.249T>A

1 paper

NM_000122.2

p.D81N

c.241G>A

1 paper

NM_000122.2

p.P80S

c.238C>T

1 paper

NM_000122.2

p.F85L

c.253T>C

1 paper

NM_000122.2

p.A79A

c.237T>C

1 paper

NM_000122.2

p.A79S

c.235G>T