Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.C412S

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.C412S
c.1235G>C
Surrounding Variants
1 paper
NM_016453.4
p.C412S
c.1234T>A
1 paper
NM_016453.4
p.E407Q
c.1219G>C
1 paper
NM_016453.4
p.W401*
c.1203G>A
1 paper
NM_016453.4
p.W401*
c.1202G>A
1 paper
NM_016453.4
p.L421_T422Splc
c.1263+7G>T
1 paper
NM_016453.4
p.Q397*
c.1189C>T
1 paper
NM_016453.4
p.A396V
c.1187C>T
1 paper
NM_016453.4
p.A396T
c.1186G>A
1 paper
NM_016453.4
p.D395D
c.1185C>T
1 paper
NM_016453.4
p.R391S
c.1171C>A
1 paper
NM_016453.4
p.D388D
c.1164C>T
1 paper
NM_016453.4
p.D388A
c.1163A>C
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