Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.K3147K

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.K3147K
c.9441G>A
Surrounding Variants
5 papers
NM_138420.4
p.K3142R
c.9425A>G
1 paper
NM_138420.4
p.L3131fs
c.9391_9392fs
1 paper
NM_138420.4
p.S3130fs
c.9388_9389fs
1 paper
NM_138420.4
p.L3165S
c.9494T>C
1 paper
NM_138420.4
p.P3171P
c.9513A>G
3 papers
NM_138420.4
p.D3176E
c.9528C>G
3 papers
NM_138420.4
p.D3176E
c.9528C>A
1 paper
NM_138420.4
p.L3177V
c.9529C>G
1 paper
NM_138420.4
p.D3112D
c.9336T>C
1 paper
NM_138420.4
p.G3108S
c.9322G>A
2 papers
NM_138420.4
p.N3188T
c.9563A>C
1 paper
NM_138420.4
p.Q3106*
c.9316C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."