Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.F892L

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.F892L
c.2674T>C
Surrounding Variants
1 paper
NM_000123.4
p.F892L
c.2676C>A
1 paper
NM_000123.4
p.F892L
c.2676C>G
1 paper
NM_000123.4
p.S893T
c.2677T>A
1 paper
NM_000123.4
p.S893A
c.2677T>G
3 papers
NM_000123.4
p.S893L
c.2678C>T
4 papers
NM_000123.4
p.S893Splc
c.2678+1G>A
2 papers
NM_000123.4
p.L889F
c.2665C>T
1 paper
NM_000123.4
p.E887G
c.2660A>G
1 paper
NM_000123.4
p.G883V
c.2648G>T
1 paper
NM_000123.4
p.G883R
c.2647G>A
1 paper
NM_000123.4
p.G883R
c.2647G>C
1 paper
NM_000123.4
p.G883W
c.2647G>T
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