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

2 papers

NM_000122.2

p.Q388*

c.1162C>T

Surrounding Variants

1 paper

NM_000122.2

p.S387R

c.1161C>G

1 paper

NM_000122.2

p.S387R

c.1161C>A

1 paper

NM_000122.2

p.S387R

c.1159A>C

1 paper

NM_000122.2

p.D386E

c.1158C>G

1 paper

NM_000122.2

p.C390S

c.1168T>A

2 papers

NM_000122.2

p.D386N

c.1156G>A

1 paper

NM_000122.2

p.C390S

c.1169G>C

1 paper

NM_000122.2

p.D385D

c.1155C>T

2 papers

NM_000122.2

p.D385N

c.1153G>A

2 papers

NM_000122.2

p.R391W

c.1171C>T

1 paper

NM_000122.2

p.I384F

c.1150A>T

1 paper

NM_000122.2

p.T383A

c.1147A>G