Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E548G

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.E548G
c.1643A>G
Surrounding Variants
1 paper
NM_000123.4
p.E548K
c.1642G>A
1 paper
NM_000123.4
p.L549F
c.1645C>T
3 papers
NM_000123.4
p.Q545*
c.1633C>T
1 paper
NM_000123.4
p.E544K
c.1630G>A
2 papers
NM_000123.4
p.D557N
c.1669G>A
1 paper
NM_000123.4
p.D557Y
c.1669G>T
1 paper
NM_000123.4
p.H539L
c.1616A>T
1 paper
NM_000123.4
p.S558P
c.1672T>C
1 paper
NM_000123.4
p.T538A
c.1612A>G
1 paper
NM_000123.4
p.S559A
c.1675T>G
1 paper
NM_000123.4
p.S559F
c.1676C>T
1 paper
NM_000123.4
p.L560V
c.1678C>G
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