Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.A1844D

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.A1844D
c.5531C>A
Surrounding Variants
2 papers
NM_138420.4
p.A1844V
c.5531C>T
1 paper
NM_138420.4
p.S1845T
c.5533T>A
1 paper
NM_138420.4
p.S1845L
c.5534C>T
1 paper
NM_138420.4
p.S1845S
c.5535G>A
1 paper
NM_138420.4
p.I1842M
c.5526C>G
1 paper
NM_138420.4
p.K1840R
c.5519A>G
1 paper
NM_138420.4
p.K1840E
c.5518A>G
1 paper
NM_138420.4
p.V1835L
c.5503G>T
1 paper
NM_138420.4
p.V1835L
c.5503G>C
1 paper
NM_138420.4
p.A1855A
c.5565C>T
1 paper
NM_138420.4
p.E1856D
c.5568A>T
1 paper
NM_138420.4
p.E1856D
c.5568A>C
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