Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD

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
1–12 of 176 variants
10 papers
NM_016453.4
p.P681H
c.2042C>A
5 papers
NM_016453.4
p.Q57H
c.171G>T
5 papers
NM_016453.4
p.Q57H
c.171G>C
4 papers
NM_016453.4
p.P13L
c.38C>T
4 papers
NM_016453.4
p.P681R
c.2042C>G
3 papers
NM_016453.4
p.L126M
c.376T>A
3 papers
NM_016453.4
p.A156S
c.466G>T
3 papers
NM_016453.4
p.G215C
c.643G>T
2 papers
NM_016453.4
p.G82D
c.245G>A
2 papers
NM_016453.4
p.P551S
c.1651C>T
2 papers
NM_016453.4
p.N562D
c.1684A>G
2 papers
NM_016453.4
p.E588K
c.1762G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."