Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.F996I

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.F996I
c.2986T>A
Surrounding Variants
2 papers
NM_000123.4
p.S995F
c.2984C>T
1 paper
NM_000123.4
p.F997fs
c.2989_2990fs
1 paper
NM_000123.4
p.D994N
c.2980G>A
1 paper
NM_000123.4
p.D994H
c.2980G>C
1 paper
NM_000123.4
p.R998T
c.2993G>C
1 paper
NM_000123.4
p.I993L
c.2977A>C
5 papers
NM_000123.4
p.L999V
c.2995T>G
4 papers
NM_000123.4
p.R992Q
c.2975G>A
2 papers
NM_000123.4
p.R992*
c.2974C>T
1 paper
NM_000123.4
p.L991F
c.2971C>T
1 paper
NM_000123.4
p.L991delFs
c.2972delT
1 paper
NM_000123.4
p.L991fs
c.2971_2972fs
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