Varaico: Literature-Extracted Genetic Variants

Gene:PSD3
Variant:p.R118*

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_206909.3
p.R118*
c.352C>T
Surrounding Variants
1 paper
NM_015310.4
p.R654_V655insFs
c.1962_1963dupAG
1 paper
NM_015310.4
p.V655fs
c.1963_1964fs
1 paper
NM_015310.4
p.N661S
c.1982A>G
1 paper
NM_015310.4
p.A642E
c.1925C>A
1 paper
NM_015310.4
p.D633N
c.1897G>A
1 paper
NM_015310.4
p.F625S
c.1874T>C
1 paper
NM_015310.4
p.R597I
c.1790G>T
2 papers
NM_015310.4
p.R591C
c.1771C>T
1 paper
NM_015310.4
p.S575N
c.1724G>A
2 papers
NM_206909.3
p.T29I
c.86C>T
NM_015310.4
p.T563I
c.1688C>T
1 paper
NM_015310.4
p.T551R
c.1652C>G
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