Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S470*

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.S470*
c.1409C>A
Surrounding Variants
1 paper
NM_000123.4
p.S470*
c.1409C>G
1 paper
NM_000123.4
p.D469Y
c.1405G>T
1 paper
NM_000123.4
p.P472S
c.1414C>T
1 paper
NM_000123.4
p.P472L
c.1415C>T
1 paper
NM_000123.4
p.E474fs
c.1420_1421fs
1 paper
NM_000123.4
p.R465I
c.1394G>T
1 paper
NM_000123.4
p.R465fs
c.1393_1394fs
1 paper
NM_000123.4
p.M476V
c.1426A>G
1 paper
NM_000123.4
p.G464E
c.1391G>A
1 paper
NM_000123.4
p.G464R
c.1390G>A
1 paper
NM_000123.4
p.G464R
c.1390G>C
1 paper
NM_000123.4
p.E463E
c.1389G>A
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