Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S5706*

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.S5706*
c.17117C>G
Surrounding Variants
1 paper
NM_138420.4
p.S5706*
c.17117C>A
1 paper
NM_138420.4
p.L5702*
c.17105T>G
1 paper
NM_138420.4
p.L5702*
c.17105T>A
1 paper
NM_138420.4
p.F5699Y
c.17096T>A
2 papers
NM_138420.4
p.R5698*
c.17092C>T
1 paper
NM_138420.4
p.E5716K
c.17146G>A
1 paper
NM_138420.4
p.W5696*
c.17088G>A
1 paper
NM_138420.4
p.W5696*
c.17087G>A
1 paper
NM_138420.4
p.G5718W
c.17152G>T
1 paper
NM_138420.4
p.Q5724*
c.17170C>T
1 paper
NM_138420.4
p.R5682*
c.17044C>T
1 paper
NM_138420.4
p.T5732M
c.17195C>T
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