Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.S120S

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.S120S
c.360A>G
Surrounding Variants
1 paper
NM_016453.4
p.S119S
c.357A>C
1 paper
NM_016453.4
p.S119*
c.356C>G
1 paper
NM_016453.4
p.S119*
c.356C>A
1 paper
NM_016453.4
p.S119A
c.355T>G
1 paper
NM_016453.4
p.D123A
c.368A>C
1 paper
NM_016453.4
p.M117I
c.351G>A
3 papers
NM_016453.4
p.L126M
c.376T>A
1 paper
NM_016453.4
p.V114A
c.341T>C
1 paper
NM_016453.4
p.S112S
c.336C>A
1 paper
NM_016453.4
p.P109S
c.325C>T
1 paper
NM_016453.4
p.Q133L
c.398A>T
1 paper
NM_016453.4
p.S105L
c.314C>T
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