Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S1012R

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.S1012R
c.3034A>C
Surrounding Variants
1 paper
NM_000123.4
p.S1012N
c.3035G>A
2 papers
NM_000123.4
p.S1012R
c.3036C>A
1 paper
NM_000123.4
p.S1012R
c.3036C>G
1 paper
NM_000123.4
p.Q1013R
c.3038A>G
1 paper
NM_000123.4
p.R1014T
c.3041G>C
1 paper
NM_000123.4
p.R1009H
c.3026G>A
2 papers
NM_000123.4
p.R1009C
c.3025C>T
1 paper
NM_000123.4
p.N1016ins3
c.3046_3047ins9
1 paper
NM_000123.4
p.K1008*
c.3022A>T
1 paper
NM_000123.4
p.N1016K
c.3048C>A
1 paper
NM_000123.4
p.A1007insFs
c.3020_3021insT
1 paper
NM_000123.4
p.N1016K
c.3048C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."