Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.I169T

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.I169T
c.506T>C
Surrounding Variants
1 paper
NM_138420.4
p.I169delFs
c.506_507delTA
1 paper
NM_138420.4
p.D199delFs
c.595delC
1 paper
NM_138420.4
p.A203P
c.607G>C
1 paper
NM_138420.4
p.S205T
c.614G>C
1 paper
NM_138420.4
p.G224_E227del4
c.670_680del12
1 paper
NM_138420.4
p.P229S
c.685C>T
1 paper
NM_138420.4
p.G237R
c.709G>A
1 paper
NM_138420.4
p.E155K
c.463G>A
1 paper
NM_138420.4
p.L150fs
c.448_449fs
1 paper
NM_138420.4
p.G249E
c.746G>A
1 paper
NM_138420.4
p.L150H
c.449T>A
1 paper
NM_138420.4
p.L150F
c.448C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."