Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.I618_S626del9

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.I618_S626del9
c.1852_1877del27
Surrounding Variants
2 papers
NM_000123.4
p.I618V
c.1852A>G
2 papers
NM_000123.4
p.Q619*
c.1855C>T
1 paper
NM_000123.4
p.L615M
c.1843C>A
1 paper
NM_000123.4
p.L615fs
c.1843_1844fs
1 paper
NM_000123.4
p.L615fs
c.1843_1844fs
1 paper
NM_000123.4
p.Q621E
c.1861C>G
1 paper
NM_000123.4
p.F614Y
c.1841T>A
1 paper
NM_000123.4
p.Q621L
c.1862A>T
2 papers
NM_000123.4
p.F614delFs
c.1842delT
1 paper
NM_000123.4
p.Q622*
c.1864C>T
3 papers
NM_000123.4
p.Q622H
c.1866G>C
1 paper
NM_000123.4
p.E612D
c.1836G>C
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