Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P2161L

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.P2161L
c.6482C>T
Surrounding Variants
1 paper
NM_138420.4
p.M2155I
c.6465G>T
1 paper
NM_138420.4
p.M2155I
c.6465G>C
1 paper
NM_138420.4
p.M2155I
c.6465G>A
1 paper
NM_138420.4
p.K2170R
c.6509A>G
1 paper
NM_138420.4
p.A2174V
c.6521C>T
1 paper
NM_138420.4
p.T2148I
c.6443C>T
1 paper
NM_138420.4
p.S2175*
c.6524C>A
1 paper
NM_138420.4
p.S2175delins
c.6523_6524delinsAT
1 paper
NM_138420.4
p.T2147fs
c.6439_6440fs
1 paper
NM_138420.4
p.L2146_T2147insFs
c.6438_6439insGG
2 papers
NM_138420.4
p.L2146fs
c.6436_6437fs
7 papers
NM_138420.4
p.L2146V
c.6436C>G
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."