Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.M921I

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.M921I
c.2763G>T
Surrounding Variants
1 paper
NM_138420.4
p.M921I
c.2763G>C
1 paper
NM_138420.4
p.M921I
c.2763G>A
1 paper
NM_138420.4
p.S923C
c.2767A>T
1 paper
NM_138420.4
p.H915Y
c.2743C>T
1 paper
NM_138420.4
p.P905P
c.2715T>C
2 papers
NM_138420.4
p.P902L
c.2705C>T
1 paper
NM_138420.4
p.A950V
c.2849C>T
1 paper
NM_138420.4
p.A950A
c.2850G>A
1 paper
NM_138420.4
p.D889V
c.2666A>T
1 paper
NM_138420.4
p.D889H
c.2665G>C
1 paper
NM_138420.4
p.K949_P955del0
c.2845_2865del21
1 paper
NM_138420.4
p.G957C
c.2869G>T
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