Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.T2198I

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.T2198I
c.6593C>T
Surrounding Variants
1 paper
NM_138420.4
p.T2198A
c.6592A>G
1 paper
NM_138420.4
p.L2196L
c.6588C>G
1 paper
NM_138420.4
p.Q2204*
c.6610C>T
1 paper
NM_138420.4
p.S2191C
c.6572C>G
3 papers
NM_138420.4
p.L2206P
c.6617T>C
1 paper
NM_138420.4
p.A2208T
c.6622G>A
3 papers
NM_138420.4
p.M2187V
c.6559A>G
2 papers
NM_138420.4
p.V2210L
c.6628G>T
2 papers
NM_138420.4
p.V2210L
c.6628G>C
1 paper
NM_138420.4
p.V2210M
c.6628G>A
1 paper
NM_138420.4
p.D2186D
c.6558C>T
1 paper
NM_138420.4
p.D2186E
c.6558C>G
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