Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.A1095_L1096delins

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.A1095_L1096delins
c.3284_3286delinsACA
Surrounding Variants
2 papers
NM_138420.4
p.L1096I
c.3286C>A
1 paper
NM_138420.4
p.A1095D
c.3284C>A
1 paper
NM_138420.4
p.V1094L
c.3280G>T
1 paper
NM_138420.4
p.V1094L
c.3280G>C
3 papers
NM_138420.4
p.F1089L
c.3267C>G
3 papers
NM_138420.4
p.F1089L
c.3267C>A
3 papers
NM_138420.4
p.F1089L
c.3265T>C
4 papers
NM_138420.4
p.V1103I
c.3307G>A
2 papers
NM_138420.4
p.E1085Q
c.3253G>C
1 paper
NM_138420.4
p.D1109N
c.3325G>A
1 paper
NM_138420.4
p.D1109A
c.3326A>C
1 paper
NM_138420.4
p.L1081L
c.3241T>C
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