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.T232A

c.694A>G

Surrounding Variants

6 papers

NM_000122.2

p.T232S

c.694A>T

2 papers

NM_000122.2

p.S233Y

c.698C>A

3 papers

NM_000122.2

p.R234*

c.700C>T

1 paper

NM_000122.2

p.R234G

c.700C>G

1 paper

NM_000122.2

p.R234Q

c.701G>A

2 papers

NM_000122.2

p.V235M

c.703G>A

1 paper

NM_000122.2

p.S227R

c.681T>G

3 papers

NM_000122.2

p.D237N

c.709G>A

1 paper

NM_000122.2

p.S226S

c.678C>T

1 paper

NM_000122.2

p.P238S

c.712C>T

1 paper

NM_000122.2

p.P238L

c.713C>T

1 paper

NM_000122.2

p.E225K

c.673G>A