Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.I1596V

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.I1596V
c.4786A>G
Surrounding Variants
1 paper
NM_138420.4
p.Q1595Q
c.4785G>A
1 paper
NM_138420.4
p.P1594S
c.4780C>T
1 paper
NM_138420.4
p.G1593E
c.4778G>A
1 paper
NM_138420.4
p.G1600V
c.4799G>T
1 paper
NM_138420.4
p.D1590G
c.4769A>G
1 paper
NM_138420.4
p.P1587H
c.4760C>A
1 paper
NM_138420.4
p.G1607D
c.4820G>A
3 papers
NM_138420.4
p.V1610A
c.4829T>C
1 paper
NM_138420.4
p.V1610delins
c.4829_4830delinsCA
1 paper
NM_138420.4
p.K1578T
c.4733A>C
1 paper
NM_138420.4
p.D1616N
c.4846G>A
1 paper
NM_138420.4
p.V1617L
c.4849G>C
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