Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E398delFs

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.E398delFs
c.1194delC
Surrounding Variants
2 papers
NM_138420.4
p.G400S
c.1198G>A
1 paper
NM_138420.4
p.Q391*
c.1171C>T
1 paper
NM_138420.4
p.G412A
c.1235G>C
1 paper
NM_138420.4
p.G413*
c.1237G>T
1 paper
NM_138420.4
p.R385*
c.1153C>T
1 paper
NM_138420.4
p.R418S
c.1254G>T
1 paper
NM_138420.4
p.R418S
c.1254G>C
1 paper
NM_138420.4
p.S375delFs
c.1125delG
1 paper
NM_138420.4
p.Q427*
c.1279C>T
1 paper
NM_138420.4
p.E430Q
c.1288G>C
1 paper
NM_138420.4
p.G363D
c.1088G>A
1 paper
NM_138420.4
p.R439insFs
c.1315_1316insTG
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