Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN3
Variant:p.P142A

PACSIN3

40 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. Alternative splic...

Pfam Domains

FCHaa 21–97UCSCFes/CIP4, and EFC/F-BAR homology domain
SH3_9aa 370–420UCSCVariant SH3 domain

Gene Aliases

HGNC Name

protein kinase C and casein kinase substrate in neurons 3

HGNC Alias Symbol

SDPIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016223.5
p.P142A
c.424C>G
Surrounding Variants
2 papers
NM_016223.5
p.A93V
c.278C>T
1 paper
NM_016223.5
p.R90_A93delFs
c.270_277del8
1 paper
NM_016223.5
p.T169M
c.506C>T
1 paper
NM_016223.5
p.A174T
c.520G>A
1 paper
NM_016223.5
p.E198*
c.592G>T
1 paper
NM_016223.5
p.K203_A204delFs
c.609_610delCT
1 paper
NM_016223.5
p.Q205L
c.614A>T
1 paper
NM_016223.5
p.T230P
c.688A>C
1 paper
NM_016223.5
p.L264L
c.792C>G
1 paper
NM_016223.5
p.H269R
c.806A>G
2 papers
NM_016223.5
p.E278K
c.832G>A
1 paper
NM_016223.5
p.Q270_D277del8
c.808_830del24
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