Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.L615fs

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.L615fs
c.1843_1844fs
Surrounding Variants
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.F614Y
c.1841T>A
2 papers
NM_000123.4
p.F614delFs
c.1842delT
1 paper
NM_000123.4
p.E612D
c.1836G>C
2 papers
NM_000123.4
p.E612D
c.1836G>T
1 paper
NM_000123.4
p.E612A
c.1835A>C
1 paper
NM_000123.4
p.I618_S626del9
c.1852_1877del27
2 papers
NM_000123.4
p.I618V
c.1852A>G
1 paper
NM_000123.4
p.H611insFs
c.1833dupT
2 papers
NM_000123.4
p.Q619*
c.1855C>T
1 paper
NM_000123.4
p.K609E
c.1825A>G
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