Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.A32G

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.A32G
c.95C>G
Surrounding Variants
1 paper
NM_016453.4
p.L36P
c.107T>C
1 paper
NM_016453.4
p.A37V
c.110C>T
1 paper
NM_016453.4
p.A38P
c.112G>C
1 paper
NM_016453.4
p.V26E
c.77T>A
1 paper
NM_016453.4
p.R41R
c.123C>A
1 paper
NM_016453.4
p.S42N
c.125G>A
1 paper
NM_016453.4
p.P49T
c.145C>A
1 paper
NM_016453.4
p.P49L
c.146C>T
4 papers
NM_016453.4
p.P13L
c.38C>T
1 paper
NM_016453.4
p.A51V
c.152C>T
1 paper
NM_016453.4
p.P13S
c.37C>T
1 paper
NM_016453.4
p.P13T
c.37C>A
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