Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L5213L

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.L5213L
c.15639G>A
Surrounding Variants
1 paper
NM_138420.4
p.V5215M
c.15643G>A
1 paper
NM_138420.4
p.R5207T
c.15620G>C
1 paper
NM_138420.4
p.F5204L
c.15612C>G
1 paper
NM_138420.4
p.F5204L
c.15612C>A
1 paper
NM_138420.4
p.F5204L
c.15610T>C
1 paper
NM_138420.4
p.R5196H
c.15587G>A
1 paper
NM_138420.4
p.S5240L
c.15719C>T
1 paper
NM_138420.4
p.S5185A
c.15553T>G
4 papers
NM_138420.4
p.Y5184D
c.15550T>G
1 paper
NM_138420.4
p.D5167N
c.15499G>A
1 paper
NM_138420.4
p.D5267N
c.15799G>A
1 paper
NM_138420.4
p.Q5145*
c.15433C>T
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