Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P4186L

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.P4186L
c.12557C>T
Surrounding Variants
1 paper
NM_138420.4
p.S4185P
c.12553T>C
1 paper
NM_138420.4
p.A4188G
c.12563C>G
1 paper
NM_138420.4
p.D4189N
c.12565G>A
1 paper
NM_138420.4
p.A4194D
c.12581C>A
1 paper
NM_138420.4
p.V4199M
c.12595G>A
1 paper
NM_138420.4
p.G4214E
c.12641G>A
1 paper
NM_138420.4
p.D4157N
c.12469G>A
1 paper
NM_138420.4
p.V4145A
c.12434T>C
2 papers
NM_138420.4
p.F4143F
c.12429C>T
1 paper
NM_138420.4
p.A4230insFs
c.12689_12690ins4
1 paper
NM_138420.4
p.F4138L
c.12414C>G
1 paper
NM_138420.4
p.F4138L
c.12414C>A
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