Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.N518fs

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.N518fs
c.1552_1553fs
Surrounding Variants
1 paper
NM_000123.4
p.P517Q
c.1550C>A
1 paper
NM_000123.4
p.P517L
c.1550C>T
1 paper
NM_000123.4
p.L516I
c.1546C>A
1 paper
NM_000123.4
p.E521K
c.1561G>A
2 papers
NM_000123.4
p.A513G
c.1538C>G
4 papers
NM_000123.4
p.A513T
c.1537G>A
1 paper
NM_000123.4
p.P524L
c.1571C>T
1 paper
NM_000123.4
p.A525S
c.1573G>T
1 paper
NM_000123.4
p.H510Y
c.1528C>T
1 paper
NM_000123.4
p.P527S
c.1579C>T
1 paper
NM_000123.4
p.V508F
c.1522G>T
1 paper
NM_000123.4
p.V507A
c.1520T>C
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."