Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN2
Variant:p.S8delFs

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.S8delFs
c.22delA
Surrounding Variants
1 paper
NM_001184970.3
p.V9I
c.25G>A
1 paper
NM_001184970.3
p.E12Q
c.34G>C
1 paper
NM_001184970.3
p.E12_V13ins2
c.36_37ins6
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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."