Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P2126R

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.P2126R
c.6377C>G
Surrounding Variants
5 papers
NM_138420.4
p.M2119I
c.6357G>T
4 papers
NM_138420.4
p.M2119I
c.6357G>C
4 papers
NM_138420.4
p.M2119I
c.6357G>A
2 papers
NM_138420.4
p.M2119V
c.6355A>G
1 paper
NM_138420.4
p.Q2136H
c.6408G>T
1 paper
NM_138420.4
p.Q2136H
c.6408G>C
1 paper
NM_138420.4
p.T2140S
c.6418A>T
1 paper
NM_138420.4
p.T2140S
c.6419C>G
2 papers
NM_138420.4
p.N2143D
c.6427A>G
1 paper
NM_138420.4
p.V2109A
c.6326T>C
2 papers
NM_138420.4
p.M2107V
c.6319A>G
7 papers
NM_138420.4
p.L2146V
c.6436C>G
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