Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q3106*

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.Q3106*
c.9316C>T
Surrounding Variants
1 paper
NM_138420.4
p.G3108S
c.9322G>A
1 paper
NM_138420.4
p.E3103Q
c.9307G>C
1 paper
NM_138420.4
p.V3102G
c.9305T>G
1 paper
NM_138420.4
p.D3101Y
c.9301G>T
1 paper
NM_138420.4
p.D3112D
c.9336T>C
1 paper
NM_138420.4
p.A3099S
c.9295G>T
1 paper
NM_138420.4
p.D3096E
c.9288C>G
1 paper
NM_138420.4
p.D3096E
c.9288C>A
3 papers
NM_138420.4
p.V3083I
c.9247G>A
1 paper
NM_138420.4
p.D3082D
c.9246T>C
1 paper
NM_138420.4
p.S3130fs
c.9388_9389fs
1 paper
NM_138420.4
p.L3131fs
c.9391_9392fs
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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."