Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L142Q

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.L142Q
c.425T>A
Surrounding Variants
1 paper
NM_138420.4
p.V141E
c.422T>A
1 paper
NM_138420.4
p.V138I
c.412G>A
1 paper
NM_138420.4
p.L150F
c.448C>T
1 paper
NM_138420.4
p.L150H
c.449T>A
1 paper
NM_138420.4
p.L150fs
c.448_449fs
1 paper
NM_138420.4
p.Q134*
c.400C>T
1 paper
NM_138420.4
p.G130A
c.389G>C
1 paper
NM_138420.4
p.E155K
c.463G>A
2 papers
NM_138420.4
p.T129R
c.386C>G
1 paper
NM_138420.4
p.S124R
c.372T>G
1 paper
NM_138420.4
p.S124R
c.372T>A
1 paper
NM_138420.4
p.S124R
c.370A>C
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