Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN1
Variant:p.R276Q

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.R276Q
c.827G>A
Surrounding Variants
1 paper
NM_020804.5
p.R285G
c.853A>G
1 paper
NM_020804.5
p.M297V
c.889A>G
1 paper
NM_020804.5
p.P300H
c.899C>A
1 paper
NM_020804.5
p.K321M
c.962A>T
2 papers
NM_020804.5
p.A334V
c.1001C>T
1 paper
NM_020804.5
p.S339P
c.1015T>C
1 paper
NM_020804.5
p.G342E
c.1025G>A
1 paper
NM_020804.5
p.N257S
c.770A>G
2 papers
NM_020804.5
p.L245F
c.733C>T
2 papers
NM_020804.5
p.R241Q
c.722G>A
1 paper
NM_020804.5
p.Q235*
c.703C>T
1 paper
NM_020804.5
p.E232Q
c.694G>C
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