Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V3539G

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.V3539G
c.10616T>G
Surrounding Variants
1 paper
NM_138420.4
p.P3545P
c.10635C>T
1 paper
NM_138420.4
p.G3554E
c.10661G>A
1 paper
NM_138420.4
p.L3556L
c.10668G>T
1 paper
NM_138420.4
p.L3521I
c.10561C>A
1 paper
NM_138420.4
p.A3518T
c.10552G>A
1 paper
NM_138420.4
p.L3516_K3517insA
c.10546_10550ins3
1 paper
NM_138420.4
p.T3566M
c.10697C>T
1 paper
NM_138420.4
p.E3504G
c.10511A>G
1 paper
NM_138420.4
p.P3501L
c.10502C>T
1 paper
NM_138420.4
p.P3501S
c.10501C>T
1 paper
NM_138420.4
p.L3496V
c.10486C>G
1 paper
NM_138420.4
p.A3590T
c.10768G>A
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