Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN2
Variant:p.G262Splc

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.G262Splc
c.785+2T>G
Surrounding Variants
2 papers
NM_001184970.3
p.S258Y
c.773C>A
1 paper
NM_001184970.3
p.E238_K239del2
c.712_716del6
1 paper
NM_001184970.3
p.E238_K239delFs
c.714_715delTC
1 paper
NM_001184970.3
p.Q235*
c.703C>T
1 paper
NM_001184970.3
p.M226T
c.677T>C
1 paper
NM_001184970.3
p.K207*
c.619A>T
1 paper
NM_001184970.3
p.E166G
c.497A>G
1 paper
NM_001184970.3
p.H159D
c.475C>G
1 paper
NM_001184970.3
p.A154T
c.460G>A
1 paper
NM_001184970.3
p.E302_E303Splc
c.907-62C>T
1 paper
NM_001184970.3
p.L312I
c.934C>A
1 paper
NM_001184970.3
p.G323S
c.967G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."