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

23 papers

NM_000122.2

p.R425*

c.1273C>T

Surrounding Variants

1 paper

NM_000122.2

p.E424*

c.1270G>T

1 paper

NM_000122.2

p.E424K

c.1270G>A

1 paper

NM_000122.2

p.V426A

c.1277T>C

1 paper

NM_000122.2

p.A423A

c.1269C>T

1 paper

NM_000122.2

p.M427T

c.1280T>C

1 paper

NM_000122.2

p.E422K

c.1264G>A

1 paper

NM_000122.2

p.W421*

c.1263G>A

1 paper

NM_000122.2

p.W421*

c.1262G>A

2 papers

NM_000122.2

p.W421R

c.1261T>C

2 papers

NM_000122.2

p.W421R

c.1261T>A

1 paper

NM_000122.2

p.S420F

c.1259C>T

4 papers

NM_000122.2

p.K418Q

c.1252A>C