Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E310*

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.E310*
c.928G>T
Surrounding Variants
2 papers
NM_138420.4
p.Q311*
c.931C>T
1 paper
NM_138420.4
p.R308H
c.923G>A
1 paper
NM_138420.4
p.Q303*
c.907C>T
1 paper
NM_138420.4
p.T300delFs
c.899_900delTG
1 paper
NM_138420.4
p.R319S
c.957G>C
1 paper
NM_138420.4
p.R329R
c.987G>A
1 paper
NM_138420.4
p.A290T
c.868G>A
1 paper
NM_138420.4
p.S337P
c.1009T>C
1 paper
NM_138420.4
p.S338*
c.1013C>A
1 paper
NM_138420.4
p.S338delFs
c.1013delG
1 paper
NM_138420.4
p.R344delFs
c.1030delT
1 paper
NM_138420.4
p.Q347K
c.1039C>A
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."