Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN2
Variant:p.K150E

PACSIN2

57 papers

RefSeq Summary

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubu...

Pfam Domains

FCHaa 23–99UCSCFes/CIP4, and EFC/F-BAR homology domain
SH3_9aa 433–483UCSCVariant SH3 domain

Gene Aliases

HGNC Name

protein kinase C and casein kinase substrate in neurons 2

HGNC Alias Symbol

SDPII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001184970.3
p.K150E
c.448A>G
Surrounding Variants
1 paper
NM_001184970.3
p.K148E
c.442A>G
1 paper
NM_001184970.3
p.K147E
c.439A>G
1 paper
NM_001184970.3
p.A141A
c.423A>T
1 paper
NM_001184970.3
p.E80delFs
c.238_239delTC
1 paper
NM_001184970.3
p.Q75H
c.225G>T
1 paper
NM_001184970.3
p.Q75H
c.225G>C
1 paper
NM_001184970.3
p.A154T
c.460G>A
1 paper
NM_001184970.3
p.H159D
c.475C>G
1 paper
NM_001184970.3
p.E166G
c.497A>G
1 paper
NM_001184970.3
p.A54A
c.162G>A
1 paper
NM_001184970.3
p.A49V
c.146C>T
1 paper
NM_001184970.3
p.R48Q
c.143G>A
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