Varaico: Literature-Extracted Genetic Variants

Gene:PSD3
Variant:p.S289F

PSD3

80 papers

Pfam Domains

Sec7aa 496–670UCSCSec7 domain
PH_9aa 721–832UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

pleckstrin and Sec7 domain containing 3

HGNC Alias Symbols

KIAA0942; HCA67; EFA6R; DKFZp761K1423; EFA6D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015310.4
p.S289F
c.866C>T
Surrounding Variants
1 paper
NM_015310.4
p.R292C
c.874C>T
3 papers
NM_015310.4
p.P293L
c.878C>T
1 paper
NM_015310.4
p.G283R
c.847G>C
1 paper
NM_015310.4
p.H298fs
c.892_893fs
1 paper
NM_015310.4
p.H298delFs
c.893_894delAT
1 paper
NM_015310.4
p.R278T
c.833G>C
1 paper
NM_015310.4
p.E305E
c.915A>G
1 paper
NM_015310.4
p.V243L
c.727G>T
1 paper
NM_015310.4
p.S338F
c.1013C>T
1 paper
NM_015310.4
p.Q231*
c.691C>T
1 paper
NM_015310.4
p.L384V
c.1150C>G
1 paper
NM_015310.4
p.G190C
c.568G>T
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