Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.R819L

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.R819L
c.2456G>T
Surrounding Variants
3 papers
NM_000123.4
p.R819W
c.2455C>T
1 paper
NM_000123.4
p.H820R
c.2459A>G
15 papers
NM_000123.4
p.A818V
c.2453C>T
1 paper
NM_000123.4
p.G817E
c.2450G>A
1 paper
NM_000123.4
p.G817*
c.2449G>T
11 papers
NM_000123.4
p.W814S
c.2441G>C
2 papers
NM_000123.4
p.F826L
c.2476T>C
9 papers
NM_000123.4
p.D812A
c.2435A>C
2 papers
NM_000123.4
p.F826L
c.2478T>A
2 papers
NM_000123.4
p.F826L
c.2478T>G
1 paper
NM_000123.4
p.S811G
c.2431A>G
1 paper
NM_000123.4
p.K828E
c.2482A>G
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