Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L3785L

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
2 papers
NM_138420.4
p.L3785L
c.11353C>T
Surrounding Variants
3 papers
NM_138420.4
p.K3779K
c.11337A>G
2 papers
NM_138420.4
p.L3791L
c.11371C>T
1 paper
NM_138420.4
p.D3793N
c.11377G>A
2 papers
NM_138420.4
p.P3776P
c.11328A>G
9 papers
NM_138420.4
p.P3776R
c.11327C>G
2 papers
NM_138420.4
p.A3775A
c.11325C>T
3 papers
NM_138420.4
p.V3769V
c.11307G>C
1 paper
NM_138420.4
p.V3769M
c.11305G>A
8 papers
NM_138420.4
p.K3802R
c.11405A>G
2 papers
NM_138420.4
p.K3802K
c.11406A>G
1 paper
NM_138420.4
p.V3762V
c.11286G>C
1 paper
NM_138420.4
p.P3760P
c.11280T>C
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