Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V2506L

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.V2506L
c.7516G>C
Surrounding Variants
1 paper
NM_138420.4
p.V2506L
c.7516G>T
1 paper
NM_138420.4
p.A2504T
c.7510G>A
2 papers
NM_138420.4
p.E2503A
c.7508A>C
1 paper
NM_138420.4
p.I2502M
c.7506C>G
1 paper
NM_138420.4
p.G2517R
c.7549G>C
1 paper
NM_138420.4
p.G2517R
c.7549G>A
3 papers
NM_138420.4
p.G2517V
c.7550G>T
2 papers
NM_138420.4
p.R2482K
c.7445G>A
1 paper
NM_138420.4
p.K2479R
c.7436A>G
1 paper
NM_138420.4
p.I2533V
c.7597A>G
1 paper
NM_138420.4
p.I2533S
c.7598T>G
1 paper
NM_138420.4
p.I2533I
c.7599T>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."