Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.N595K

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.N595K
c.1785C>A
Surrounding Variants
1 paper
NM_016453.4
p.N595K
c.1785C>G
1 paper
NM_016453.4
p.G597V
c.1790G>T
2 papers
NM_016453.4
p.E588K
c.1762G>A
1 paper
NM_016453.4
p.S587S
c.1761C>T
1 paper
NM_016453.4
p.S587F
c.1760C>T
1 paper
NM_016453.4
p.H580P
c.1739A>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.V601L
c.1801G>T
1 paper
NM_016453.4
p.V601L
c.1801G>C
1 paper
NM_016453.4
p.R602C
c.1804C>T
1 paper
NM_016453.4
p.N562Y
c.1684A>T
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