Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S389L

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.S389L
c.1166C>T
Surrounding Variants
1 paper
NM_000123.4
p.A390fs
c.1168_1169fs
1 paper
NM_000123.4
p.L388F
c.1162C>T
2 papers
NM_000123.4
p.L388_S389delFs
c.1164_1165delTT
4 papers
NM_000123.4
p.I391insFs
c.1173dupT
6 papers
NM_000123.4
p.K392*
c.1174A>T
1 paper
NM_000123.4
p.R386W
c.1156C>T
1 paper
NM_000123.4
p.R393K
c.1178G>A
1 paper
NM_000123.4
p.R393R
c.1179A>G
2 papers
NM_000123.4
p.A394_D398del5
c.1180_1193del15
1 paper
NM_000123.4
p.P385S
c.1153C>T
1 paper
NM_000123.4
p.S384*
c.1151C>A
1 paper
NM_000123.4
p.S384*
c.1151C>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."