Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.L550_P551delins

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.L550_P551delins
c.1650_1651delinsTT
Surrounding Variants
2 papers
NM_016453.4
p.P551S
c.1651C>T
1 paper
NM_016453.4
p.P551L
c.1652C>T
1 paper
NM_016453.4
p.T547K
c.1640C>A
1 paper
NM_016453.4
p.P543S
c.1627C>T
1 paper
NM_016453.4
p.N562Y
c.1684A>T
2 papers
NM_016453.4
p.N562D
c.1684A>G
1 paper
NM_016453.4
p.E524A
c.1571A>C
1 paper
NM_016453.4
p.M574insFs
c.1721dupT
1 paper
NM_016453.4
p.M574fs
c.1720_1721fs
1 paper
NM_016453.4
p.H580P
c.1739A>C
1 paper
NM_016453.4
p.S587F
c.1760C>T
1 paper
NM_016453.4
p.S587S
c.1761C>T
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."