Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A1119S

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.A1119S
c.3355G>T
Surrounding Variants
5 papers
NM_000123.4
p.A1119V
c.3356C>T
1 paper
NM_000123.4
p.A1119A
c.3357G>A
1 paper
NM_000123.4
p.K1120N
c.3360A>T
2 papers
NM_000123.4
p.E1121D
c.3363G>C
1 paper
NM_000123.4
p.E1121D
c.3363G>T
1 paper
NM_000123.4
p.P1122S
c.3364C>T
2 papers
NM_000123.4
p.R1115_A1118del4
c.3343_3353del12
1 paper
NM_000123.4
p.V1113A
c.3338T>C
1 paper
NM_000123.4
p.A1126V
c.3377C>T
1 paper
NM_000123.4
p.L1110S
c.3329T>C
1 paper
NM_000123.4
p.D1128Y
c.3382G>T
1 paper
NM_000123.4
p.S1129*
c.3386C>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."