Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P5397A

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
6 papers
NM_138420.4
p.P5397A
c.16189C>G
Surrounding Variants
1 paper
NM_138420.4
p.T5409N
c.16226C>A
1 paper
NM_138420.4
p.T5383fs
c.16147_16148fs
1 paper
NM_138420.4
p.R5411_E5412ins4
c.16231_16235ins12
1 paper
NM_138420.4
p.R5411_E5412ins10
c.16231_16235ins30
1 paper
NM_138420.4
p.E5412_V5413ins11
c.16234_16238ins33
1 paper
NM_138420.4
p.P5416S
c.16246C>T
1 paper
NM_138420.4
p.E5352*
c.16054G>T
1 paper
NM_138420.4
p.W5347*
c.16041G>A
1 paper
NM_138420.4
p.W5347*
c.16040G>A
1 paper
NM_138420.4
p.E5345D
c.16035G>T
1 paper
NM_138420.4
p.E5345D
c.16035G>C
1 paper
NM_138420.4
p.I5460T
c.16379T>C
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