Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.D1104H

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
239 papers
NM_000123.4
p.D1104H
c.3310G>C
Surrounding Variants
1 paper
NM_000123.4
p.D1104N
c.3310G>A
1 paper
NM_000123.4
p.S1102I
c.3305G>T
1 paper
NM_000123.4
p.E1106V
c.3317A>T
1 paper
NM_000123.4
p.S1100C
c.3299C>G
1 paper
NM_000123.4
p.G1099A
c.3296G>C
1 paper
NM_000123.4
p.G1099V
c.3296G>T
1 paper
NM_000123.4
p.L1110S
c.3329T>C
1 paper
NM_000123.4
p.S1097F
c.3290C>T
1 paper
NM_000123.4
p.S1096fs
c.3286_3287fs
1 paper
NM_000123.4
p.E1095_D1098delFs
c.3285_3294del10
1 paper
NM_000123.4
p.V1113A
c.3338T>C
1 paper
NM_000123.4
p.S1094L
c.3281C>T
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