Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.P247S

NCKIPSD

238 papers

RefSeq Summary

The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils int...

Pfam Domains

SH3_1aa 3–50UCSCSH3 domain
SPIN90_LRDaa 547–683UCSCSPIN90/Ldb17, leucine-rich domain

Gene Aliases

HGNC Name

NCK interacting protein with SH3 domain

HGNC Alias Symbols

AF3P21; SPIN90; ORF1; WISH; WASLBP; DIP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016453.4
p.P247S
c.739C>T
Surrounding Variants
1 paper
NM_016453.4
p.R249Q
c.746G>A
1 paper
NM_016453.4
p.P244Q
c.731C>A
1 paper
NM_016453.4
p.S237Y
c.710C>A
1 paper
NM_016453.4
p.S256_Q257delFs
c.766_769del4
1 paper
NM_016453.4
p.G236C
c.706G>T
1 paper
NM_016453.4
p.Q259*
c.775C>T
1 paper
NM_016453.4
p.E234G
c.701A>G
1 paper
NM_016453.4
p.S230delFs
c.688_689delGA
1 paper
NM_016453.4
p.Y227F
c.680A>T
1 paper
NM_016453.4
p.P270insFs
c.810dupC
1 paper
NM_016453.4
p.S222F
c.665C>T
1 paper
NM_016453.4
p.S220N
c.659G>A
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