Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E360insFs

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.E360insFs
c.1078dupG
Surrounding Variants
1 paper
NM_000123.4
p.E359G
c.1076A>G
1 paper
NM_000123.4
p.E359K
c.1075G>A
1 paper
NM_000123.4
p.E360D
c.1080G>C
1 paper
NM_000123.4
p.E360D
c.1080G>T
1 paper
NM_000123.4
p.L361delFs
c.1081delC
1 paper
NM_000123.4
p.L361fs
c.1081_1082fs
1 paper
NM_000123.4
p.S357L
c.1070C>T
1 paper
NM_000123.4
p.L361L
c.1083G>T
1 paper
NM_000123.4
p.S363C
c.1087A>T
1 paper
NM_000123.4
p.L353P
c.1058T>C
1 paper
NM_000123.4
p.L353M
c.1057C>A
1 paper
NM_000123.4
p.L353_G354insA
c.1057_1061ins3
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