Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E3011D

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.E3011D
c.9033A>T
Surrounding Variants
1 paper
NM_138420.4
p.E3011D
c.9033A>C
1 paper
NM_138420.4
p.E3011K
c.9031G>A
1 paper
NM_138420.4
p.V3008M
c.9022G>A
2 papers
NM_138420.4
p.T3023N
c.9068C>A
1 paper
NM_138420.4
p.S2996C
c.8987C>G
1 paper
NM_138420.4
p.A3033S
c.9097G>T
1 paper
NM_138420.4
p.K2982R
c.8945A>G
2 papers
NM_138420.4
p.L3044V
c.9130C>G
1 paper
NM_138420.4
p.A2973T
c.8917G>A
1 paper
NM_138420.4
p.P3052L
c.9155C>T
1 paper
NM_138420.4
p.G2962G
c.8886T>G
1 paper
NM_138420.4
p.L3064V
c.9190T>G
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