Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P444S

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.P444S
c.1330C>T
Surrounding Variants
1 paper
NM_138420.4
p.R448W
c.1342C>T
1 paper
NM_138420.4
p.R448R
c.1342C>A
1 paper
NM_138420.4
p.R439insFs
c.1315_1316insTG
2 papers
NM_138420.4
p.G450S
c.1348G>A
1 paper
NM_138420.4
p.G452S
c.1354G>A
1 paper
NM_138420.4
p.E453K
c.1357G>A
1 paper
NM_138420.4
p.E430Q
c.1288G>C
1 paper
NM_138420.4
p.L458Q
c.1373T>A
1 paper
NM_138420.4
p.Q427*
c.1279C>T
1 paper
NM_138420.4
p.A463T
c.1387G>A
1 paper
NM_138420.4
p.R418S
c.1254G>T
1 paper
NM_138420.4
p.R418S
c.1254G>C
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