Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.G805R

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
17 papers
NM_000123.4
p.G805R
c.2413G>C
Surrounding Variants
17 papers
NM_000123.4
p.G805R
c.2413G>A
1 paper
NM_000123.4
p.T806N
c.2417C>A
1 paper
NM_000123.4
p.I807I
c.2421C>T
1 paper
NM_000123.4
p.D801_Q802delFs
c.2403_2404delTC
1 paper
NM_000123.4
p.D809fs
c.2425_2426fs
2 papers
NM_000123.4
p.D801Y
c.2401G>T
2 papers
NM_000123.4
p.D809fs
c.2425_2426fs
5 papers
NM_000123.4
p.D809delFs
c.2427delT
1 paper
NM_000123.4
p.D810_W814delFs
c.2429_2441del13
1 paper
NM_000123.4
p.S811G
c.2431A>G
1 paper
NM_000123.4
p.L799L
c.2395C>T
11 papers
NM_000123.4
p.D798Y
c.2392G>T
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