Varaico: Literature-Extracted Genetic Variants

Gene:PSD3

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
1–12 of 77 variants
3 papers
NM_015310.4
p.T186P
c.556A>C
3 papers
NM_015310.4
p.P293L
c.878C>T
3 papers
NM_015310.4
p.K988E
c.2962A>G
2 papers
NM_015310.4
p.D113V
c.338A>T
2 papers
NM_015310.4
p.T186delins
c.556_557delinsCT
2 papers
NM_015310.4
p.R591C
c.1771C>T
2 papers
NM_015310.4
p.H796Y
c.2386C>T
1 paper
NM_015310.4
p.V14V
c.42G>A
1 paper
NM_015310.4
p.K26Q
c.76A>C
1 paper
NM_015310.4
p.F33C
c.98T>G
1 paper
NM_015310.4
p.T50T
c.150T>C
1 paper
NM_015310.4
p.P61T
c.181C>A
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