Varaico: Literature-Extracted Genetic Variants

Gene:ELF3
Variant:p.L51*

ELF3

252 papers

Pfam Domains

SAM_PNTaa 48–132UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 272–355UCSCEts-domain

Gene Aliases

HGNC Name

E74 like ETS transcription factor 3

HGNC Alias Symbols

EPR-1; ESE-1; ERT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004433.5
p.L51*
c.152T>A
Surrounding Variants
1 paper
NM_004433.5
p.E52insFs
c.154dupG
2 papers
NM_004433.5
p.L51fs
c.151_152fs
1 paper
NM_004433.5
p.E52Q
c.154G>C
1 paper
NM_004433.5
p.E52fs
c.154_155fs
1 paper
NM_004433.5
p.T54fs
c.160_161fs
4 papers
NM_004433.5
p.Q48L
c.143A>T
1 paper
NM_004433.5
p.T54I
c.161C>T
1 paper
NM_004433.5
p.Q48*
c.142C>T
1 paper
NM_004433.5
p.Q48delFs
c.143delA
1 paper
NM_004433.5
p.E55*
c.163G>T
1 paper
NM_004433.5
p.E55Splc
c.163+1G>A
1 paper
NM_004433.5
p.N46fs
c.136_137fs
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