Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.D379Y

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
2 papers
NM_000123.4
p.D379Y
c.1135G>T
Surrounding Variants
1 paper
NM_000123.4
p.A377A
c.1131T>C
1 paper
NM_000123.4
p.A376V
c.1127C>T
4 papers
NM_000123.4
p.A374T
c.1120G>A
1 paper
NM_000123.4
p.A374S
c.1120G>T
1 paper
NM_000123.4
p.S384*
c.1151C>A
1 paper
NM_000123.4
p.S384*
c.1151C>G
1 paper
NM_000123.4
p.P385S
c.1153C>T
1 paper
NM_000123.4
p.R372S
c.1116G>C
1 paper
NM_000123.4
p.R372S
c.1116G>T
1 paper
NM_000123.4
p.R372T
c.1115G>C
1 paper
NM_000123.4
p.R372fs
c.1114_1115fs
2 papers
NM_000123.4
p.R372fs
c.1114_1115fs
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