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.I306M

c.918C>G

Surrounding Variants

1 paper

NM_000122.2

p.I306T

c.917T>C

2 papers

NM_000122.2

p.I306V

c.916A>G

1 paper

NM_000122.2

p.N307S

c.920A>G

1 paper

NM_000122.2

p.N307_I308ins1

c.921_922insAGC

1 paper

NM_000122.2

p.I308T

c.923T>C

2 papers

NM_000122.2

p.D309N

c.925G>A

2 papers

NM_000122.2

p.P304L

c.911C>T

1 paper

NM_000122.2

p.D309A

c.926A>C

1 paper

NM_000122.2

p.L310ins2

c.928_929ins6

2 papers

NM_000122.2

p.P312S

c.934C>T

1 paper

NM_000122.2

p.S301C

c.902C>G

2 papers

NM_000122.2

p.S301A

c.901T>G