Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.N1131fs

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.N1131fs
c.3391_3392fs
Surrounding Variants
1 paper
NM_000123.4
p.N1131delFs
c.3392delA
1 paper
NM_000123.4
p.S1129*
c.3386C>A
2 papers
NM_000123.4
p.S1129L
c.3386C>T
1 paper
NM_000123.4
p.D1128Y
c.3382G>T
1 paper
NM_000123.4
p.K1134N
c.3402G>C
1 paper
NM_000123.4
p.K1134N
c.3402G>T
1 paper
NM_000123.4
p.A1126V
c.3377C>T
1 paper
NM_000123.4
p.P1137L
c.3410C>T
3 papers
NM_000123.4
p.V1138M
c.3412G>A
1 paper
NM_000123.4
p.P1122S
c.3364C>T
2 papers
NM_000123.4
p.E1121D
c.3363G>C
1 paper
NM_000123.4
p.E1121D
c.3363G>T
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