Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S5642C

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.S5642C
c.16925C>G
Surrounding Variants
1 paper
NM_138420.4
p.A5632V
c.16895C>T
1 paper
NM_138420.4
p.L5626M
c.16876C>A
1 paper
NM_138420.4
p.S5619R
c.16857C>G
1 paper
NM_138420.4
p.S5619R
c.16857C>A
1 paper
NM_138420.4
p.S5619R
c.16855A>C
1 paper
NM_138420.4
p.N5667insFs
c.17000dupA
1 paper
NM_138420.4
p.P5616delFs
c.16848delA
1 paper
NM_138420.4
p.P5616delFs
c.16847delG
1 paper
NM_138420.4
p.Q5670*
c.17008C>T
1 paper
NM_138420.4
p.Q5678*
c.17032C>T
1 paper
NM_138420.4
p.R5682*
c.17044C>T
1 paper
NM_138420.4
p.W5696*
c.17087G>A
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