Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q726H

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
4 papers
NM_138420.4
p.Q726H
c.2178G>C
Surrounding Variants
4 papers
NM_138420.4
p.Q726H
c.2178G>T
1 paper
NM_138420.4
p.V725I
c.2173G>A
1 paper
NM_138420.4
p.A730T
c.2188G>A
1 paper
NM_138420.4
p.T720A
c.2158A>G
1 paper
NM_138420.4
p.Q715H
c.2145G>T
1 paper
NM_138420.4
p.Q715H
c.2145G>C
1 paper
NM_138420.4
p.S713F
c.2138C>T
1 paper
NM_138420.4
p.D740E
c.2220T>A
1 paper
NM_138420.4
p.L712P
c.2135T>C
1 paper
NM_138420.4
p.L712F
c.2134C>T
2 papers
NM_138420.4
p.P744L
c.2231C>T
1 paper
NM_138420.4
p.L743_P744delins
c.2229_2231delinsCCT
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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."