Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.Q757*

ERCC5

1,002 papers

RefSeq Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, in...

Pfam Domains

XPG_Naa 1–98UCSCXPG N-terminal domain
XPG_Iaa 780–861UCSCXPG I-region

Gene Aliases

HGNC Name

ERCC excision repair 5, endonuclease

HGNC Previous Symbols

ERCM2; XPGC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000123.4
p.Q757*
c.2269C>T
Surrounding Variants
1 paper
NM_000123.4
p.Q756Q
c.2268G>A
1 paper
NM_000123.4
p.Q755E
c.2263C>G
1 paper
NM_000123.4
p.R759W
c.2275C>T
1 paper
NM_000123.4
p.R759Q
c.2276G>A
2 papers
NM_000123.4
p.R759L
c.2276G>T
1 paper
NM_000123.4
p.K754I
c.2261A>T
1 paper
NM_000123.4
p.K754fs
c.2260_2261fs
1 paper
NM_000123.4
p.Q753K
c.2257C>A
1 paper
NM_000123.4
p.Q753E
c.2257C>G
3 papers
NM_000123.4
p.Q753delFs
c.2258delA
5 papers
NM_000123.4
p.A761T
c.2281G>A
3 papers
NM_000123.4
p.A761V
c.2282C>T
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