Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.D227V

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.D227V
c.680A>T
Surrounding Variants
1 paper
NM_000123.4
p.D227E
c.681T>G
1 paper
NM_000123.4
p.D228Y
c.682G>T
2 papers
NM_000123.4
p.F229_Y232del4
c.685_695del12
2 papers
NM_000123.4
p.S226F
c.677C>T
1 paper
NM_000123.4
p.F229L
c.685T>C
1 paper
NM_000123.4
p.E225Q
c.673G>C
1 paper
NM_000123.4
p.E225fs
c.673_674fs
1 paper
NM_000123.4
p.F229L
c.687T>A
1 paper
NM_000123.4
p.F229L
c.687T>G
1 paper
NM_000123.4
p.E224_E225Splc
c.673-1G>A
1 paper
NM_000123.4
p.S230P
c.688T>C
2 papers
NM_000123.4
p.E224_E225Splc
c.673-2A>G
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