Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D3341E

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.D3341E
c.10023C>A
Surrounding Variants
1 paper
NM_138420.4
p.D3341E
c.10023C>G
1 paper
NM_138420.4
p.L3344H
c.10031T>A
6 papers
NM_138420.4
p.P3336L
c.10007C>T
1 paper
NM_138420.4
p.P3336_K3337insA
c.10006_10010ins3
1 paper
NM_138420.4
p.Q3328E
c.9982C>G
1 paper
NM_138420.4
p.P3323L
c.9968C>T
1 paper
NM_138420.4
p.P3361P
c.10083T>C
4 papers
NM_138420.4
p.V3363A
c.10088T>C
1 paper
NM_138420.4
p.G3370C
c.10108G>T
1 paper
NM_138420.4
p.S3306N
c.9917G>A
2 papers
NM_138420.4
p.E3395Q
c.10183G>C
1 paper
NM_138420.4
p.K3284Q
c.9850A>C
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