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.D475E

c.1425C>G

Surrounding Variants

1 paper

NM_000122.2

p.D475E

c.1425C>A

1 paper

NM_000122.2

p.K476Q

c.1426A>C

1 paper

NM_000122.2

p.D475Y

c.1423G>T

1 paper

NM_000122.2

p.D475H

c.1423G>C

6 papers

NM_000122.2

p.D474fs

c.1420_1421fs

14 papers

NM_000122.2

p.D474insFs

c.1421dupA

1 paper

NM_000122.2

p.I477T

c.1430T>C

5 papers

NM_000122.2

p.D474fs

c.1420_1421fs

1 paper

NM_000122.2

p.D474Y

c.1420G>T

3 papers

NM_000122.2

p.E473A

c.1418A>C

1 paper

NM_000122.2

p.V478fs

c.1432_1433fs

1 paper

NM_000122.2

p.D479N

c.1435G>A