Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2

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
1–12 of 1037 variants
9 papers
NM_138420.4
p.P3776R
c.11327C>G
8 papers
NM_138420.4
p.K781T
c.2342A>C
8 papers
NM_138420.4
p.L3217P
c.9650T>C
8 papers
NM_138420.4
p.K3802R
c.11405A>G
7 papers
NM_138420.4
p.L2146V
c.6436C>G
6 papers
NM_138420.4
p.L2911I
c.8731C>A
6 papers
NM_138420.4
p.V3209L
c.9625G>C
6 papers
NM_138420.4
p.P3336L
c.10007C>T
6 papers
NM_138420.4
p.P5397A
c.16189C>G
5 papers
NM_138420.4
p.E825A
c.2474A>C
5 papers
NM_138420.4
p.E1148D
c.3444A>T
5 papers
NM_138420.4
p.E1148D
c.3444A>C
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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."