Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.M658V

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.M658V
c.1972A>G
Surrounding Variants
1 paper
NM_016453.4
p.E659K
c.1975G>A
1 paper
NM_016453.4
p.H665Y
c.1993C>T
1 paper
NM_016453.4
p.Q675H
c.2025G>C
1 paper
NM_016453.4
p.R677H
c.2030G>A
4 papers
NM_016453.4
p.P681R
c.2042C>G
10 papers
NM_016453.4
p.P681H
c.2042C>A
1 paper
NM_016453.4
p.R688_R689del2
c.2062_2066del6
1 paper
NM_016453.4
p.D703Y
c.2107G>T
1 paper
NM_016453.4
p.R708L
c.2123G>T
2 papers
NM_016453.4
p.H633Y
c.1897C>T
1 paper
NM_016453.4
p.A629A
c.1887C>T
1 paper
NM_016453.4
p.P625L
c.1874C>T
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