Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D1978E

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.D1978E
c.5934C>A
Surrounding Variants
1 paper
NM_138420.4
p.D1978E
c.5934C>G
1 paper
NM_138420.4
p.L1974R
c.5921T>G
1 paper
NM_138420.4
p.S1997S
c.5991G>A
1 paper
NM_138420.4
p.P1952L
c.5855C>T
1 paper
NM_138420.4
p.R2005K
c.6014G>A
1 paper
NM_138420.4
p.E2008K
c.6022G>A
1 paper
NM_138420.4
p.V1947G
c.5840T>G
1 paper
NM_138420.4
p.P2014S
c.6040C>T
1 paper
NM_138420.4
p.A2015P
c.6043G>C
1 paper
NM_138420.4
p.A2015E
c.6044C>A
1 paper
NM_138420.4
p.A2020A
c.6060C>T
1 paper
NM_138420.4
p.D2021D
c.6063C>T
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