Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E3719D

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.E3719D
c.11157G>T
Surrounding Variants
1 paper
NM_138420.4
p.E3719D
c.11157G>C
1 paper
NM_138420.4
p.L3729F
c.11187G>T
1 paper
NM_138420.4
p.L3729F
c.11187G>C
1 paper
NM_138420.4
p.G3709D
c.11126G>A
1 paper
NM_138420.4
p.G3738S
c.11212G>A
1 paper
NM_138420.4
p.P3691L
c.11072C>T
1 paper
NM_138420.4
p.P3691H
c.11072C>A
1 paper
NM_138420.4
p.V3752D
c.11255T>A
3 papers
NM_138420.4
p.S3753P
c.11257T>C
2 papers
NM_138420.4
p.A3755V
c.11264C>T
1 paper
NM_138420.4
p.T3684A
c.11050A>G
1 paper
NM_138420.4
p.T3683A
c.11047A>G
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