Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.G865R

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.G865R
c.2593G>A
Surrounding Variants
1 paper
NM_000123.4
p.G865R
c.2593G>C
2 papers
NM_000123.4
p.E864K
c.2590G>A
2 papers
NM_000123.4
p.T863fs
c.2587_2588fs
1 paper
NM_000123.4
p.T863fs
c.2587_2588fs
3 papers
NM_000123.4
p.P867L
c.2600C>T
1 paper
NM_000123.4
p.T868fs
c.2602_2603fs
4 papers
NM_000123.4
p.V869delFs
c.2606_2607delTG
2 papers
NM_000123.4
p.Y862_T863delFs
c.2586_2587delTA
1 paper
NM_000123.4
p.V869fs
c.2605_2606fs
3 papers
NM_000123.4
p.V869fs
c.2605_2606fs
1 paper
NM_000123.4
p.G870S
c.2608G>A
1 paper
NM_000123.4
p.C871F
c.2612G>T
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