Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E1048D

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
5 papers
NM_001350929.2
p.E1048D
c.3144A>T
NM_138420.4
p.E1148D
c.3444A>T
Surrounding Variants
5 papers
NM_001350929.2
p.E1048D
c.3144A>C
NM_138420.4
p.E1148D
c.3444A>C
2 papers
NM_138420.4
p.R1144Q
c.3431G>A
2 papers
NM_138420.4
p.R1144W
c.3430C>T
1 paper
NM_138420.4
p.S1142R
c.3426T>G
1 paper
NM_138420.4
p.S1142R
c.3426T>A
1 paper
NM_138420.4
p.S1142G
c.3424A>G
1 paper
NM_138420.4
p.S1142R
c.3424A>C
1 paper
NM_138420.4
p.D1160Y
c.3478G>T
2 papers
NM_138420.4
p.G1137R
c.3409G>C
2 papers
NM_138420.4
p.G1137R
c.3409G>A
1 paper
NM_138420.4
p.P1136P
c.3408G>T
1 paper
NM_138420.4
p.P1136L
c.3407C>T
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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."