Varaico: Literature-Extracted Genetic Variants

Gene:PSD2

PSD2

58 papers

Pfam Domains

Sec7aa 301–464UCSCSec7 domain
PH_9aa 514–625UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

pleckstrin and Sec7 domain containing 2

HGNC Alias Symbols

DKFZp761B0514; EFA6C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_032289.4
p.D355N
c.1063G>A
2 papers
NM_032289.4
p.K530R
c.1589A>G
1 paper
NM_032289.4
p.E3*
c.7G>T
1 paper
NM_032289.4
p.D15N
c.43G>A
1 paper
NM_032289.4
p.G47E
c.140G>A
1 paper
NM_032289.4
p.G52C
c.154G>T
1 paper
NM_032289.4
p.E59*
c.175G>T
1 paper
NM_032289.4
p.S93L
c.278C>T
1 paper
NM_032289.4
p.P116L
c.347C>T
1 paper
NM_032289.4
p.V133L
c.397G>C
1 paper
NM_032289.4
p.V133L
c.397G>T
1 paper
NM_032289.4
p.E148K
c.442G>A
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