Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.A73V

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.A73V
c.218C>T
Surrounding Variants
1 paper
NM_016453.4
p.V74L
c.220G>T
1 paper
NM_016453.4
p.V74L
c.220G>C
1 paper
NM_016453.4
p.E72K
c.214G>A
1 paper
NM_016453.4
p.T77A
c.229A>G
1 paper
NM_016453.4
p.T77T
c.231A>T
1 paper
NM_016453.4
p.R80W
c.238C>T
1 paper
NM_016453.4
p.L64R
c.191T>G
2 papers
NM_016453.4
p.G82D
c.245G>A
1 paper
NM_016453.4
p.Y85F
c.254A>T
1 paper
NM_016453.4
p.Q61L
c.182A>T
1 paper
NM_016453.4
p.Q89K
c.265C>A
1 paper
NM_016453.4
p.R90H
c.269G>A
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