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.S335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_000122.2

p.S335L

c.1004C>T

3 papers

NM_000122.2

p.S335fs

c.1003_1004fs

2 papers

NM_000122.2

p.R334C

c.1000C>T

2 papers

NM_000122.2

p.R334S

c.1000C>A

1 paper

NM_000122.2

p.A333E

c.998C>A

1 paper

NM_000122.2

p.V337I

c.1009G>A

1 paper

NM_000122.2

p.V337fs

c.1009_1010fs

3 papers

NM_000122.2

p.S335delFs

c.1005delC

1 paper

NM_000122.2

p.V337fs

c.1009_1010fs

2 papers

NM_000122.2

p.R332C

c.994C>T

1 paper

NM_000122.2

p.I338V

c.1012A>G

1 paper

NM_000122.2

p.R325_F328del0

c.973_984del12