Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.M348_L352del5

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.M348_L352del5
c.1042_1055del15
Surrounding Variants
1 paper
NM_000123.4
p.M348V
c.1042A>G
3 papers
NM_000123.4
p.A347S
c.1039G>T
1 paper
NM_000123.4
p.M348I
c.1044G>A
1 paper
NM_000123.4
p.M348I
c.1044G>C
1 paper
NM_000123.4
p.M348I
c.1044G>T
1 paper
NM_000123.4
p.Q349R
c.1046A>G
3 papers
NM_000123.4
p.L345*
c.1034T>A
3 papers
NM_000123.4
p.L345*
c.1034T>G
1 paper
NM_000123.4
p.L345I
c.1033T>A
1 paper
NM_000123.4
p.A350A
c.1050T>A
2 papers
NM_000123.4
p.L345insFs
c.1034_1035insT
1 paper
NM_000123.4
p.T344S
c.1031C>G
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