Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D990E

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.D990E
c.2970C>G
Surrounding Variants
1 paper
NM_138420.4
p.D990E
c.2970C>A
1 paper
NM_138420.4
p.A993T
c.2977G>A
1 paper
NM_138420.4
p.D988N
c.2962G>A
1 paper
NM_138420.4
p.K997R
c.2990A>G
1 paper
NM_138420.4
p.V966A
c.2897T>C
1 paper
NM_138420.4
p.K1015R
c.3044A>G
1 paper
NM_138420.4
p.G957V
c.2870G>T
1 paper
NM_138420.4
p.G957C
c.2869G>T
1 paper
NM_138420.4
p.K949_P955del0
c.2845_2865del21
1 paper
NM_138420.4
p.A950A
c.2850G>A
1 paper
NM_138420.4
p.A950V
c.2849C>T
1 paper
NM_138420.4
p.S923C
c.2767A>T
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