Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V4257M

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.V4257M
c.12769G>A
Surrounding Variants
1 paper
NM_138420.4
p.V4256A
c.12767T>C
1 paper
NM_138420.4
p.M4253K
c.12758T>A
1 paper
NM_138420.4
p.V4268I
c.12802G>A
1 paper
NM_138420.4
p.K4242E
c.12724A>G
2 papers
NM_138420.4
p.V4278A
c.12833T>C
1 paper
NM_138420.4
p.A4230insFs
c.12689_12690ins4
1 paper
NM_138420.4
p.G4214E
c.12641G>A
1 paper
NM_138420.4
p.P4306L
c.12917C>T
1 paper
NM_138420.4
p.G4309R
c.12925G>C
1 paper
NM_138420.4
p.G4309R
c.12925G>A
1 paper
NM_138420.4
p.V4199M
c.12595G>A
1 paper
NM_138420.4
p.A4319V
c.12956C>T
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