Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V2178L

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.V2178L
c.6532G>T
Surrounding Variants
1 paper
NM_138420.4
p.V2178L
c.6532G>C
1 paper
NM_138420.4
p.D2177H
c.6529G>C
1 paper
NM_138420.4
p.P2180S
c.6538C>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.A2174V
c.6521C>T
1 paper
NM_138420.4
p.K2170R
c.6509A>G
1 paper
NM_138420.4
p.D2186D
c.6558C>T
1 paper
NM_138420.4
p.D2186E
c.6558C>G
1 paper
NM_138420.4
p.D2186E
c.6558C>A
3 papers
NM_138420.4
p.M2187V
c.6559A>G
1 paper
NM_138420.4
p.S2191C
c.6572C>G
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