Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D1815D

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.D1815D
c.5445T>C
Surrounding Variants
1 paper
NM_138420.4
p.T1817T
c.5451T>A
5 papers
NM_138420.4
p.K1822R
c.5465A>G
1 paper
NM_138420.4
p.G1807G
c.5421T>G
1 paper
NM_138420.4
p.M1825I
c.5475G>T
1 paper
NM_138420.4
p.L1805fs
c.5413_5414fs
1 paper
NM_138420.4
p.M1825I
c.5475G>C
1 paper
NM_138420.4
p.M1825I
c.5475G>A
1 paper
NM_138420.4
p.R1804_L1805insFs
c.5412_5413ins11
1 paper
NM_138420.4
p.R1804fs
c.5410_5411fs
1 paper
NM_138420.4
p.R1804insFs
c.5411_5412ins4
1 paper
NM_138420.4
p.R1804insFs
c.5411_5412ins10
1 paper
NM_138420.4
p.R1804W
c.5410C>T
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