Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L1199fs

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.L1199fs
c.3595_3596fs
Surrounding Variants
1 paper
NM_138420.4
p.S1198fs
c.3592_3593fs
1 paper
NM_138420.4
p.S1198S
c.3594T>C
2 papers
NM_138420.4
p.T1208A
c.3622A>G
1 paper
NM_138420.4
p.T1208fs
c.3622_3623fs
1 paper
NM_138420.4
p.S1189P
c.3565T>C
1 paper
NM_138420.4
p.A1175_V1188del0
c.3524_3562del39
1 paper
NM_138420.4
p.L1211L
c.3633C>G
1 paper
NM_138420.4
p.V1186A
c.3557T>C
1 paper
NM_138420.4
p.I1213V
c.3637A>G
1 paper
NM_138420.4
p.I1213I
c.3639T>A
1 paper
NM_001350929.2
p.S1085*
c.3254C>A
2 papers
NM_138420.4
p.S1185T
c.3553T>A
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