Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E4550Q

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.E4550Q
c.13648G>C
Surrounding Variants
2 papers
NM_138420.4
p.G4541D
c.13622G>A
1 paper
NM_138420.4
p.V4539G
c.13616T>G
3 papers
NM_138420.4
p.L4561I
c.13681C>A
2 papers
NM_138420.4
p.M4536L
c.13606A>T
2 papers
NM_138420.4
p.M4536L
c.13606A>C
1 paper
NM_138420.4
p.G4534D
c.13601G>A
1 paper
NM_138420.4
p.T4509I
c.13526C>T
1 paper
NM_138420.4
p.S4593R
c.13777A>C
1 paper
NM_138420.4
p.S4593R
c.13779C>G
1 paper
NM_138420.4
p.S4593R
c.13779C>A
1 paper
NM_138420.4
p.A4608V
c.13823C>T
1 paper
NM_138420.4
p.S4485P
c.13453T>C
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