Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.I4348V

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.I4348V
c.13042A>G
Surrounding Variants
1 paper
NM_138420.4
p.D4354D
c.13062T>C
1 paper
NM_138420.4
p.V4357V
c.13071C>A
1 paper
NM_138420.4
p.A4330A
c.12990T>C
1 paper
NM_138420.4
p.E4329K
c.12985G>A
1 paper
NM_138420.4
p.V4328A
c.12983T>C
3 papers
NM_138420.4
p.L4326P
c.12977T>C
1 paper
NM_138420.4
p.A4325V
c.12974C>T
3 papers
NM_138420.4
p.L4321V
c.12961T>G
1 paper
NM_138420.4
p.L4321M
c.12961T>A
1 paper
NM_138420.4
p.A4319V
c.12956C>T
1 paper
NM_138420.4
p.L4384V
c.13150C>G
1 paper
NM_138420.4
p.G4309R
c.12925G>C
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