Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V2210M

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.V2210M
c.6628G>A
Surrounding Variants
2 papers
NM_138420.4
p.V2210L
c.6628G>T
2 papers
NM_138420.4
p.V2210L
c.6628G>C
1 paper
NM_138420.4
p.A2208T
c.6622G>A
3 papers
NM_138420.4
p.L2206P
c.6617T>C
1 paper
NM_138420.4
p.Q2204*
c.6610C>T
1 paper
NM_138420.4
p.V2219V
c.6657G>T
2 papers
NM_138420.4
p.K2220K
c.6660A>G
1 paper
NM_138420.4
p.T2198I
c.6593C>T
1 paper
NM_138420.4
p.T2198A
c.6592A>G
1 paper
NM_138420.4
p.L2222P
c.6665T>C
1 paper
NM_138420.4
p.L2196L
c.6588C>G
1 paper
NM_138420.4
p.V2226A
c.6677T>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."