Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.G4691E

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.G4691E
c.14072G>A
Surrounding Variants
1 paper
NM_138420.4
p.V4693A
c.14078T>C
1 paper
NM_138420.4
p.R4682H
c.14045G>A
1 paper
NM_138420.4
p.R4682C
c.14044C>T
1 paper
NM_138420.4
p.P4680Q
c.14039C>A
1 paper
NM_138420.4
p.D4676H
c.14026G>C
5 papers
NM_138420.4
p.T4664A
c.13990A>G
1 paper
NM_138420.4
p.K4718_D4719insFs
c.14154_14155insT
1 paper
NM_138420.4
p.K4718fs
c.14152_14153fs
1 paper
NM_138420.4
p.G4724D
c.14171G>A
2 papers
NM_138420.4
p.I4729M
c.14187A>G
1 paper
NM_138420.4
p.W4640*
c.13920G>A
1 paper
NM_138420.4
p.W4640*
c.13919G>A
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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."