Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L2333delins

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.L2333delins
c.6998_6999delinsCA
Surrounding Variants
2 papers
NM_138420.4
p.L2333P
c.6998T>C
1 paper
NM_138420.4
p.L2333F
c.6997C>T
1 paper
NM_138420.4
p.G2329V
c.6986G>T
1 paper
NM_138420.4
p.F2328F
c.6984T>C
1 paper
NM_138420.4
p.S2327L
c.6980C>T
2 papers
NM_138420.4
p.L2326P
c.6977T>C
1 paper
NM_138420.4
p.V2343L
c.7027G>C
1 paper
NM_138420.4
p.A2350A
c.7050C>T
1 paper
NM_138420.4
p.D2351N
c.7051G>A
1 paper
NM_138420.4
p.D2310D
c.6930C>T
1 paper
NM_138420.4
p.M2357L
c.7069A>T
1 paper
NM_138420.4
p.M2357L
c.7069A>C
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