Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L1486insFs

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.L1486insFs
c.4456_4457insG
Surrounding Variants
2 papers
NM_138420.4
p.L1486fs
c.4456_4457fs
1 paper
NM_138420.4
p.T1488A
c.4462A>G
1 paper
NM_138420.4
p.D1483N
c.4447G>A
4 papers
NM_138420.4
p.K1492R
c.4475A>G
1 paper
NM_138420.4
p.E1477G
c.4430A>G
1 paper
NM_138420.4
p.P1501L
c.4502C>T
1 paper
NM_138420.4
p.P1501P
c.4503G>A
1 paper
NM_138420.4
p.E1464D
c.4392G>T
1 paper
NM_138420.4
p.E1464D
c.4392G>C
1 paper
NM_138420.4
p.D1462delins
c.4385_4386delinsTG
1 paper
NM_138420.4
p.S1515S
c.4545A>G
1 paper
NM_138420.4
p.S1519C
c.4556C>G
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