Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.N853H

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.N853H
c.2557A>C
Surrounding Variants
1 paper
NM_000123.4
p.I852M
c.2556A>G
1 paper
NM_000123.4
p.A855S
c.2563G>T
1 paper
NM_000123.4
p.L851I
c.2551T>A
2 papers
NM_000123.4
p.A855V
c.2564C>T
1 paper
NM_000123.4
p.Y856C
c.2567A>G
1 paper
NM_000123.4
p.R848Q
c.2543G>A
1 paper
NM_000123.4
p.L858I
c.2572C>A
17 papers
NM_000123.4
p.L858P
c.2573T>C
1 paper
NM_000123.4
p.L858R
c.2573T>G
1 paper
NM_000123.4
p.D847Y
c.2539G>T
1 paper
NM_000123.4
p.G845insFs
c.2535dupA
1 paper
NM_000123.4
p.G845fs
c.2533_2534fs
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