Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P1530L

AHNAK2

380 papers

RefSeq Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-ter...

Gene Aliases

HGNC Name

AHNAK nucleoprotein 2

HGNC Previous Symbol

C14orf78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138420.4
p.P1530L
c.4589C>T
Surrounding Variants
1 paper
NM_138420.4
p.P1530P
c.4590C>T
1 paper
NM_138420.4
p.M1532L
c.4594A>T
1 paper
NM_138420.4
p.M1532L
c.4594A>C
1 paper
NM_138420.4
p.D1526D
c.4578C>T
1 paper
NM_138420.4
p.D1535insFs
c.4604dupA
1 paper
NM_138420.4
p.V1523A
c.4568T>C
1 paper
NM_138420.4
p.A1538T
c.4612G>A
1 paper
NM_138420.4
p.K1522K
c.4566G>A
1 paper
NM_138420.4
p.P1521P
c.4563G>C
1 paper
NM_138420.4
p.P1521L
c.4562C>T
1 paper
NM_138420.4
p.P1521S
c.4561C>T
1 paper
NM_138420.4
p.A1520A
c.4560G>A
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