Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K1052N

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.K1052N
c.3156A>C
Surrounding Variants
1 paper
NM_000123.4
p.K1052N
c.3156A>T
16 papers
NM_000123.4
p.G1053R
c.3157G>A
18 papers
NM_000123.4
p.G1053R
c.3157G>C
1 paper
NM_000123.4
p.G1053*
c.3157G>T
3 papers
NM_000123.4
p.G1053E
c.3158G>A
1 paper
NM_000123.4
p.K1054Q
c.3160A>C
1 paper
NM_000123.4
p.K1054R
c.3161A>G
1 paper
NM_000123.4
p.T1055I
c.3164C>T
1 paper
NM_000123.4
p.Q1056E
c.3166C>G
1 paper
NM_000123.4
p.D1049N
c.3145G>A
2 papers
NM_000123.4
p.D1049H
c.3145G>C
1 paper
NM_000123.4
p.D1049delFs
c.3146delA
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