Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.F3478L

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.F3478L
c.10432T>C
Surrounding Variants
1 paper
NM_138420.4
p.F3478L
c.10434C>G
1 paper
NM_138420.4
p.F3478L
c.10434C>A
1 paper
NM_138420.4
p.K3477_P3481del0
c.10429_10443del15
1 paper
NM_138420.4
p.V3485L
c.10453G>T
1 paper
NM_138420.4
p.V3485L
c.10453G>C
1 paper
NM_138420.4
p.D3470N
c.10408G>A
1 paper
NM_138420.4
p.L3496V
c.10486C>G
1 paper
NM_138420.4
p.P3501S
c.10501C>T
1 paper
NM_138420.4
p.P3501L
c.10502C>T
1 paper
NM_138420.4
p.E3504G
c.10511A>G
1 paper
NM_138420.4
p.R3447K
c.10340G>A
1 paper
NM_138420.4
p.L3516_K3517insA
c.10546_10550ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."