Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN1

PACSIN1

41 papers

Pfam Domains

FCHaa 24–100UCSCFes/CIP4, and EFC/F-BAR homology domain
SH3_9aa 392–442UCSCVariant SH3 domain

Gene Aliases

HGNC Name

protein kinase C and casein kinase substrate in neurons 1

HGNC Alias Symbol

SDPI

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_020804.5
p.K30R
c.89A>G
2 papers
NM_020804.5
p.Q59K
c.175C>A
2 papers
NM_020804.5
p.R241Q
c.722G>A
2 papers
NM_020804.5
p.L245F
c.733C>T
2 papers
NM_020804.5
p.A334V
c.1001C>T
2 papers
NM_020804.5
p.P437L
c.1310C>T
1 paper
NM_020804.5
p.S4S
c.12C>T
1 paper
NM_020804.5
p.S9T
c.25T>A
1 paper
NM_020804.5
p.K65R
c.194A>G
1 paper
NM_020804.5
p.T89I
c.266C>T
1 paper
NM_020804.5
p.D92G
c.275A>G
1 paper
NM_020804.5
p.H98Y
c.292C>T
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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."