Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN2
Variant:p.L312I

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.L312I
c.934C>A
Surrounding Variants
1 paper
NM_001184970.3
p.G323S
c.967G>A
1 paper
NM_001184970.3
p.V324A
c.971T>C
1 paper
NM_001184970.3
p.T327T
c.981G>A
1 paper
NM_001184970.3
p.G328S
c.982G>A
1 paper
NM_001184970.3
p.D334N
c.1000G>A
1 paper
NM_001184970.3
p.Q335E
c.1003C>G
1 paper
NM_001184970.3
p.E302_E303Splc
c.907-62C>T
1 paper
NM_001184970.3
p.S360N
c.1079G>A
1 paper
NM_001184970.3
p.D379N
c.1135G>A
1 paper
NM_001184970.3
p.E389D
c.1167G>T
1 paper
NM_001184970.3
p.E389D
c.1167G>C
1 paper
NM_001184970.3
p.A423T
c.1267G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."