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.W374ins2

c.1120_1121ins6

Surrounding Variants

1 paper

NM_000122.2

p.E372_W374ins1

c.1115_1120dup6

1 paper

NM_000122.2

p.W374*

c.1121G>A

1 paper

NM_000122.2

p.W374*

c.1122G>A

2 papers

NM_000122.2

p.Q373*

c.1117C>T

1 paper

NM_000122.2

p.A376S

c.1126G>T

1 paper

NM_000122.2

p.V371_E372ins2

c.1113_1114ins6

1 paper

NM_000122.2

p.A376D

c.1127C>A

1 paper

NM_000122.2

p.Q377*

c.1129C>T

1 paper

NM_000122.2

p.Q377L

c.1130A>T

1 paper

NM_000122.2

p.S370F

c.1109C>T

1 paper

NM_000122.2

p.S370T

c.1108T>A

1 paper

NM_000122.2

p.M380T

c.1139T>C