Varaico: Literature-Extracted Genetic Variants

Gene:ELP3

ELP3

100 papers

Pfam Domains

ELP3_Naa 15–84UCSCELP3 N-terminal domain
Radical_SAMaa 25–233UCSCRadical SAM superfamily
Radical_SAM_Caa 240–321UCSCRadical_SAM C-terminal domain

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 3

HGNC Alias Symbols

FLJ10422; KAT9

Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
2 papers
NM_018091.6
p.E31E
c.93G>A
2 papers
NM_018091.6
p.I36I
c.108C>A
2 papers
NM_018091.6
p.K40R
c.119A>G
2 papers
NM_018091.6
p.R69L
c.206G>T
2 papers
NM_018091.6
p.T105T
c.315A>T
2 papers
NM_018091.6
p.C109Y
c.326G>A
2 papers
NM_018091.6
p.T128S
c.382A>T
2 papers
NM_018091.6
p.K316*
c.946A>T
2 papers
NM_018091.6
p.M371V
c.1111A>G
2 papers
NM_018091.6
p.R487W
c.1459C>T
1 paper
NM_018091.6
p.M1V
c.1A>G
1 paper
NM_018091.6
p.M1I
c.3G>A
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