Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.R144Q

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.R144Q
c.431G>A
Surrounding Variants
1 paper
NM_016453.4
p.E143K
c.427G>A
1 paper
NM_016453.4
p.F142F
c.426C>T
1 paper
NM_016453.4
p.G136E
c.407G>A
1 paper
NM_016453.4
p.Q133L
c.398A>T
3 papers
NM_016453.4
p.A156S
c.466G>T
1 paper
NM_016453.4
p.Y161F
c.482A>T
3 papers
NM_016453.4
p.L126M
c.376T>A
1 paper
NM_016453.4
p.Q162_I163Splc
c.486+3G>C
1 paper
NM_016453.4
p.D123A
c.368A>C
1 paper
NM_016453.4
p.S120S
c.360A>G
1 paper
NM_016453.4
p.S119S
c.357A>C
1 paper
NM_016453.4
p.S119*
c.356C>G
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