Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN1
Variant:p.K30R

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
Selected Variant
2 papers
NM_020804.5
p.K30R
c.89A>G
Surrounding Variants
2 papers
NM_020804.5
p.Q59K
c.175C>A
1 paper
NM_020804.5
p.K65R
c.194A>G
1 paper
NM_020804.5
p.S9T
c.25T>A
1 paper
NM_020804.5
p.S4S
c.12C>T
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
1 paper
NM_020804.5
p.N104S
c.311A>G
1 paper
NM_020804.5
p.D119D
c.357C>T
1 paper
NM_020804.5
p.T132M
c.395C>T
1 paper
NM_020804.5
p.E136K
c.406G>A
1 paper
NM_020804.5
p.E152_L153Splc
c.456+2T>G
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