Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.A2043T

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
2 papers
NM_138420.4
p.A2043T
c.6127G>A
Surrounding Variants
2 papers
NM_138420.4
p.P2041L
c.6122C>T
1 paper
NM_138420.4
p.L2045V
c.6133C>G
1 paper
NM_138420.4
p.P2041A
c.6121C>G
2 papers
NM_138420.4
p.T2049A
c.6145A>G
1 paper
NM_138420.4
p.D2035fs
c.6103_6104fs
2 papers
NM_138420.4
p.T2033A
c.6097A>G
2 papers
NM_138420.4
p.H2060Q
c.6180C>G
2 papers
NM_138420.4
p.H2060Q
c.6180C>A
4 papers
NM_138420.4
p.V2061L
c.6181G>T
4 papers
NM_138420.4
p.V2061L
c.6181G>C
2 papers
NM_138420.4
p.V2061M
c.6181G>A
2 papers
NM_138420.4
p.P2025S
c.6073C>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."