Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K828N

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.K828N
c.2484A>T
Surrounding Variants
1 paper
NM_000123.4
p.K828N
c.2484A>C
1 paper
NM_000123.4
p.K828E
c.2482A>G
1 paper
NM_000123.4
p.N829S
c.2486A>G
1 paper
NM_000123.4
p.K830N
c.2490G>C
1 paper
NM_000123.4
p.K830N
c.2490G>T
2 papers
NM_000123.4
p.F826L
c.2478T>A
2 papers
NM_000123.4
p.F826L
c.2478T>G
2 papers
NM_000123.4
p.F826L
c.2476T>C
1 paper
NM_000123.4
p.V832I
c.2494G>A
1 paper
NM_000123.4
p.V832E
c.2495T>A
1 paper
NM_000123.4
p.Y834C
c.2501A>G
1 paper
NM_000123.4
p.Y834*
c.2502T>A
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