Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.P309A

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.P309A
c.925C>G
Surrounding Variants
1 paper
NM_016453.4
p.A306G
c.917C>G
1 paper
NM_016453.4
p.I312T
c.935T>C
1 paper
NM_016453.4
p.A303T
c.907G>A
1 paper
NM_016453.4
p.T292T
c.876A>T
1 paper
NM_016453.4
p.G291D
c.872G>A
1 paper
NM_016453.4
p.E329G
c.986A>G
1 paper
NM_016453.4
p.L287L
c.861G>A
1 paper
NM_016453.4
p.A334T
c.1000G>A
1 paper
NM_016453.4
p.I335Fs
c.1003delinsGAFs
1 paper
NM_016453.4
p.G336C
c.1006G>T
1 paper
NM_016453.4
p.T280P
c.838A>C
1 paper
NM_016453.4
p.P270insFs
c.810dupC
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