Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN1
Variant:p.K197R

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
1 paper
NM_020804.5
p.K197R
c.590A>G
Surrounding Variants
1 paper
NM_020804.5
p.N176N
c.528C>T
1 paper
NM_020804.5
p.A159S
c.475G>T
1 paper
NM_020804.5
p.E154delFs
c.462delG
1 paper
NM_020804.5
p.E154K
c.460G>A
1 paper
NM_020804.5
p.Q222L
c.665A>T
1 paper
NM_020804.5
p.E232Q
c.694G>C
1 paper
NM_020804.5
p.Q235*
c.703C>T
2 papers
NM_020804.5
p.R241Q
c.722G>A
2 papers
NM_020804.5
p.L245F
c.733C>T
1 paper
NM_020804.5
p.N257S
c.770A>G
1 paper
NM_020804.5
p.E152_L153Splc
c.456+2T>G
1 paper
NM_020804.5
p.E136K
c.406G>A
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