Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.T4443A

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.T4443A
c.13327A>G
Surrounding Variants
1 paper
NM_138420.4
p.R4444W
c.13330C>T
2 papers
NM_138420.4
p.V4456_T4457insG
c.13366_13370ins3
1 paper
NM_138420.4
p.V4456M
c.13366G>A
1 paper
NM_138420.4
p.V4424M
c.13270G>A
2 papers
NM_138420.4
p.S4419T
c.13255T>A
1 paper
NM_138420.4
p.K4467E
c.13399A>G
1 paper
NM_138420.4
p.T4418M
c.13253C>T
1 paper
NM_138420.4
p.G4412V
c.13235G>T
1 paper
NM_138420.4
p.G4474R
c.13420G>C
1 paper
NM_138420.4
p.G4474R
c.13420G>A
1 paper
NM_138420.4
p.L4410P
c.13229T>C
1 paper
NM_138420.4
p.P4478L
c.13433C>T
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