Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.D630G

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.D630G
c.1889A>G
Surrounding Variants
1 paper
NM_000123.4
p.Q629H
c.1887G>C
1 paper
NM_000123.4
p.Q629H
c.1887G>T
3 papers
NM_000123.4
p.A627E
c.1880C>A
1 paper
NM_000123.4
p.S633F
c.1898C>T
1 paper
NM_000123.4
p.P635S
c.1903C>T
1 paper
NM_000123.4
p.E625K
c.1873G>A
1 paper
NM_000123.4
p.E625*
c.1873G>T
1 paper
NM_000123.4
p.K636E
c.1906A>G
1 paper
NM_000123.4
p.A637_I643del7
c.1909_1928del21
1 paper
NM_000123.4
p.A637T
c.1909G>A
1 paper
NM_000123.4
p.T623P
c.1867A>C
3 papers
NM_000123.4
p.Q622H
c.1866G>C
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