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.V107G

c.320T>G

Surrounding Variants

1 paper

NM_000122.2

p.V107L

c.319G>T

1 paper

NM_000122.2

p.V107fs

c.319_320fs

1 paper

NM_000122.2

p.V107L

c.319G>C

1 paper

NM_000122.2

p.C108S

c.322T>A

1 paper

NM_000122.2

p.P106fs

c.316_317fs

1 paper

NM_000122.2

p.C108S

c.323G>C

60 papers

NM_000122.2

p.R109*

c.325C>T

6 papers

NM_000122.2

p.E105G

c.314A>G

1 paper

NM_000122.2

p.P110T

c.328C>A

1 paper

NM_000122.2

p.A104T

c.310G>A

1 paper

NM_000122.2

p.T111A

c.331A>G

1 paper

NM_000122.2

p.T111fs

c.331_332fs