Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P3052L

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.P3052L
c.9155C>T
Surrounding Variants
2 papers
NM_138420.4
p.L3044V
c.9130C>G
1 paper
NM_138420.4
p.L3064V
c.9190T>G
1 paper
NM_138420.4
p.P3067S
c.9199C>T
1 paper
NM_138420.4
p.A3033S
c.9097G>T
4 papers
NM_138420.4
p.R3076H
c.9227G>A
2 papers
NM_138420.4
p.G3078*
c.9232G>T
2 papers
NM_138420.4
p.G3078G
c.9234A>C
2 papers
NM_138420.4
p.T3023N
c.9068C>A
1 paper
NM_138420.4
p.D3082D
c.9246T>C
3 papers
NM_138420.4
p.V3083I
c.9247G>A
1 paper
NM_138420.4
p.E3011D
c.9033A>T
1 paper
NM_138420.4
p.E3011D
c.9033A>C
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