Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E740del1

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.E740del1
c.2218_2219delGAG
Surrounding Variants
1 paper
NM_000123.4
p.T738A
c.2212A>G
1 paper
NM_000123.4
p.E737G
c.2210A>G
1 paper
NM_000123.4
p.L736F
c.2208G>C
1 paper
NM_000123.4
p.L736F
c.2208G>T
1 paper
NM_000123.4
p.L736V
c.2206T>G
1 paper
NM_000123.4
p.L743V
c.2227C>G
1 paper
NM_000123.4
p.E735Q
c.2203G>C
1 paper
NM_000123.4
p.E734D
c.2202G>C
1 paper
NM_000123.4
p.E734D
c.2202G>T
1 paper
NM_000123.4
p.A745V
c.2234C>T
1 paper
NM_000123.4
p.Q746H
c.2238G>C
1 paper
NM_000123.4
p.Q747K
c.2239C>A
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."