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.A102D

c.305C>A

Surrounding Variants

1 paper

NM_000122.2

p.I103V

c.307A>G

1 paper

NM_000122.2

p.V101A

c.302T>C

2 papers

NM_000122.2

p.L100F

c.300G>T

2 papers

NM_000122.2

p.L100F

c.300G>C

1 paper

NM_000122.2

p.A104T

c.310G>A

1 paper

NM_000122.2

p.L100V

c.298T>G

43 papers

NM_000122.2

p.F99S

c.296T>C

6 papers

NM_000122.2

p.E105G

c.314A>G

1 paper

NM_000122.2

p.D98V

c.293A>T

1 paper

NM_000122.2

p.D98Y

c.292G>T

1 paper

NM_000122.2

p.Q97insFs

c.291dupA

1 paper

NM_000122.2

p.P106fs

c.316_317fs