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.C361F

c.1082G>T

Surrounding Variants

1 paper

NM_000122.2

p.C361S

c.1082G>C

1 paper

NM_000122.2

p.C361S

c.1081T>A

1 paper

NM_000122.2

p.A354_L362delFs

c.1062_1084del23

1 paper

NM_000122.2

p.R360H

c.1079G>A

3 papers

NM_000122.2

p.R360C

c.1078C>T

1 paper

NM_000122.2

p.V363E

c.1088T>A

1 paper

NM_000122.2

p.K359R

c.1076A>G

4 papers

NM_000122.2

p.K359E

c.1075A>G

1 paper

NM_000122.2

p.R358I

c.1073G>T

1 paper

NM_000122.2

p.G365C

c.1093G>T

3 papers

NM_000122.2

p.G365D

c.1094G>A

1 paper

NM_000122.2

p.T356I

c.1067C>T