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.F703C

c.2108T>G

Surrounding Variants

19 papers

NM_000122.2

p.S704L

c.2111C>T

1 paper

NM_000122.2

p.A702V

c.2105C>T

2 papers

NM_000122.2

p.S704S

c.2112G>A

1 paper

NM_000122.2

p.E697_E699del3

c.2089_2096del9

1 paper

NM_000122.2

p.D700H

c.2098G>C

1 paper

NM_000122.2

p.E697K

c.2089G>A

1 paper

NM_000122.2

p.Q710*

c.2128C>T

3 papers

NM_000122.2

p.M696R

c.2087T>G

1 paper

NM_000122.2

p.Q710H

c.2130G>T

1 paper

NM_000122.2

p.Q710H

c.2130G>C

1 paper

NM_000122.2

p.Q711R

c.2132A>G

10 papers

NM_000122.2

p.A694T

c.2080G>A