Varaico: Literature-Extracted Genetic Variants

Gene:NCKIPSD
Variant:p.H522Y

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.H522Y
c.1564C>T
Surrounding Variants
1 paper
NM_016453.4
p.V511ins5
c.1531_1532ins15
1 paper
NM_016453.4
p.A505V
c.1514C>T
1 paper
NM_016453.4
p.D497G
c.1490A>G
1 paper
NM_016453.4
p.T495delFs
c.1483_1484delGT
1 paper
NM_016453.4
p.T495fs
c.1483_1484fs
1 paper
NM_016453.4
p.E524A
c.1571A>C
1 paper
NM_016453.4
p.L487_T493del7
c.1459_1478del21
1 paper
NM_016453.4
p.L487_D490del4
c.1459_1469del12
1 paper
NM_016453.4
p.A488delFs
c.1462_1463delGC
1 paper
NM_016453.4
p.E486K
c.1456G>A
1 paper
NM_016453.4
p.S481F
c.1442C>T
1 paper
NM_016453.4
p.S481A
c.1441T>G
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