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.E138*

c.412G>T

Surrounding Variants

1 paper

NM_000122.2

p.E138V

c.413A>T

1 paper

NM_000122.2

p.T137I

c.410C>T

2 papers

NM_000122.2

p.Y139D

c.415T>G

1 paper

NM_000122.2

p.Y139Y

c.417C>T

1 paper

NM_000122.2

p.L140F

c.418C>T

1 paper

NM_000122.2

p.I136F

c.406A>T

1 paper

NM_000122.2

p.D135delFs

c.403delC

1 paper

NM_000122.2

p.S134C

c.400A>T

1 paper

NM_000122.2

p.K142M

c.425A>T

1 paper

NM_000122.2

p.T133N

c.398C>A

1 paper

NM_000122.2

p.S144I

c.431G>T

1 paper

NM_000122.2

p.S144T

c.431G>C