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.F482L

c.1446T>G

Surrounding Variants

1 paper

NM_000122.2

p.F482L

c.1446T>A

1 paper

NM_000122.2

p.F482S

c.1445T>C

1 paper

NM_000122.2

p.F482L

c.1444T>C

1 paper

NM_000122.2

p.D479N

c.1435G>A

1 paper

NM_000122.2

p.P486P

c.1458T>C

1 paper

NM_000122.2

p.V478fs

c.1432_1433fs

1 paper

NM_000122.2

p.K487Q

c.1459A>C

1 paper

NM_000122.2

p.K487T

c.1460A>C

1 paper

NM_000122.2

p.I477T

c.1430T>C

1 paper

NM_000122.2

p.Y489C

c.1466A>G

1 paper

NM_000122.2

p.K476Q

c.1426A>C

1 paper

NM_000122.2

p.D475E

c.1425C>G