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.S738I

c.2213G>T

Surrounding Variants

1 paper

NM_000122.2

p.S738N

c.2213G>A

2 papers

NM_000122.2

p.Q739*

c.2215C>T

1 paper

NM_000122.2

p.Q739_A740Splc

c.2217+1G>A

2 papers

NM_000122.2

p.R736I

c.2207G>T

1 paper

NM_000122.2

p.R736G

c.2206A>G

7 papers

NM_000122.2

p.S735P

c.2203T>C

1 paper

NM_000122.2

p.E732A

c.2195A>C

1 paper

NM_000122.2

p.G731W

c.2191G>T

2 papers

NM_000122.2

p.V729V

c.2187G>A

1 paper

NM_000122.2

p.V728E

c.2183T>A

2 papers

NM_000122.2

p.E727del1

c.2179_2180delCTC

1 paper

NM_000122.2

p.V728M

c.2182G>A