Varaico: Literature-Extracted Genetic Variants

Gene:ELP3
Variant:p.I138V

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
Selected Variant
1 paper
NM_018091.6
p.I138V
c.412A>G
Surrounding Variants
2 papers
NM_018091.6
p.T128S
c.382A>T
1 paper
NM_018091.6
p.Y127F
c.380A>T
1 paper
NM_018091.6
p.G115A
c.344G>C
1 paper
NM_018091.6
p.C112S
c.335G>C
1 paper
NM_018091.6
p.C112S
c.334T>A
1 paper
NM_018091.6
p.M170I
c.510G>A
1 paper
NM_018091.6
p.M175I
c.525G>C
1 paper
NM_018091.6
p.D183G
c.548A>G
1 paper
NM_018091.6
p.Y202F
c.605A>T
1 paper
NM_018091.6
p.V110Splc
c.329+6T>G
2 papers
NM_018091.6
p.C109Y
c.326G>A
1 paper
NM_018091.6
p.C109S
c.326G>C
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