Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K535N

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.K535N
c.1605G>T
Surrounding Variants
1 paper
NM_000123.4
p.K535N
c.1605G>C
1 paper
NM_000123.4
p.K535E
c.1603A>G
1 paper
NM_000123.4
p.T538A
c.1612A>G
1 paper
NM_000123.4
p.V533L
c.1597G>C
1 paper
NM_000123.4
p.V533L
c.1597G>T
1 paper
NM_000123.4
p.S532F
c.1595C>T
1 paper
NM_000123.4
p.H539L
c.1616A>T
26 papers
NM_000123.4
p.C529S
c.1586G>C
26 papers
NM_000123.4
p.C529S
c.1585T>A
1 paper
NM_000123.4
p.E544K
c.1630G>A
1 paper
NM_000123.4
p.P527S
c.1579C>T
3 papers
NM_000123.4
p.Q545*
c.1633C>T
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