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.K94N

c.282A>C

Surrounding Variants

1 paper

NM_000122.2

p.K94N

c.282A>T

1 paper

NM_000122.2

p.Y95H

c.283T>C

1 paper

NM_000122.2

p.Y93C

c.278A>G

1 paper

NM_000122.2

p.Y93delFs

c.277delA

1 paper

NM_000122.2

p.Y93N

c.277T>A

1 paper

NM_000122.2

p.Q97*

c.289C>T

1 paper

NM_000122.2

p.Q97K

c.289C>A

1 paper

NM_000122.2

p.V92I

c.274G>A

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.P91S

c.271C>T

1 paper

NM_000122.2

p.P91A

c.271C>G