Varaico: Literature-Extracted Genetic Variants

Gene:PSD2
Variant:p.V575M

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
Selected Variant
1 paper
NM_032289.4
p.V575M
c.1723G>A
Surrounding Variants
1 paper
NM_032289.4
p.R574H
c.1721G>A
1 paper
NM_032289.4
p.K562E
c.1684A>G
1 paper
NM_032289.4
p.A598G
c.1793C>G
1 paper
NM_032289.4
p.F603insFs
c.1807_1808insTG
1 paper
NM_032289.4
p.K555_D556Splc
c.1665+2T>C
1 paper
NM_032289.4
p.I550I
c.1650C>T
2 papers
NM_032289.4
p.K530R
c.1589A>G
1 paper
NM_032289.4
p.G517S
c.1549G>A
1 paper
NM_032289.4
p.V505I
c.1513G>A
1 paper
NM_032289.4
p.T489T
c.1467G>A
1 paper
NM_032289.4
p.T489M
c.1466C>T
1 paper
NM_032289.4
p.L473insFs
c.1418_1419insTG
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