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

2 papers

NM_000122.2

p.A88G

c.263C>G

Surrounding Variants

1 paper

NM_000122.2

p.A88D

c.263C>A

2 papers

NM_000122.2

p.A88delFs

c.263_264delGG

1 paper

NM_000122.2

p.F89fs

c.265_266fs

1 paper

NM_000122.2

p.L86F

c.258G>T

1 paper

NM_000122.2

p.L86F

c.258G>C

1 paper

NM_000122.2

p.S90C

c.269C>G

1 paper

NM_000122.2

p.P91S

c.271C>T

1 paper

NM_000122.2

p.P91A

c.271C>G

1 paper

NM_000122.2

p.F85L

c.255C>G

1 paper

NM_000122.2

p.F85L

c.255C>A

1 paper

NM_000122.2

p.F85L

c.253T>C

1 paper

NM_000122.2

p.V92I

c.274G>A