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.M255V

c.763A>G

Surrounding Variants

5 papers

NM_000122.2

p.Q254*

c.760C>T

1 paper

NM_000122.2

p.D256D

c.768C>T

1 paper

NM_000122.2

p.E253A

c.758A>C

1 paper

NM_000122.2

p.D258E

c.774T>G

1 paper

NM_000122.2

p.D258E

c.774T>A

1 paper

NM_000122.2

p.E259K

c.775G>A

7 papers

NM_000122.2

p.E259D

c.777A>T

7 papers

NM_000122.2

p.E259D

c.777A>C

1 paper

NM_000122.2

p.F249L

c.747T>G

1 paper

NM_000122.2

p.F249L

c.747T>A

1 paper

NM_000122.2

p.F249L

c.745T>C

1 paper

NM_000122.2

p.E261delFs

c.783delT