Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.A1218T

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
4 papers
NM_138420.4
p.A1218T
c.3652G>A
Surrounding Variants
2 papers
NM_138420.4
p.A1218A
c.3654T>C
4 papers
NM_138420.4
p.E1221K
c.3661G>A
1 paper
NM_138420.4
p.V1222I
c.3664G>A
1 paper
NM_138420.4
p.I1213I
c.3639T>A
1 paper
NM_138420.4
p.H1223Y
c.3667C>T
1 paper
NM_138420.4
p.I1213V
c.3637A>G
1 paper
NM_138420.4
p.H1223Q
c.3669C>G
1 paper
NM_138420.4
p.H1223Q
c.3669C>A
1 paper
NM_138420.4
p.L1211L
c.3633C>G
1 paper
NM_138420.4
p.Q1226K
c.3676C>A
1 paper
NM_138420.4
p.T1208fs
c.3622_3623fs
2 papers
NM_138420.4
p.T1208A
c.3622A>G
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