Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.G540delFs

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.G540delFs
c.1619delC
Surrounding Variants
1 paper
NM_138420.4
p.T545_H546insFs
c.1635_1636insAA
1 paper
NM_138420.4
p.G534G
c.1602A>C
1 paper
NM_138420.4
p.G529G
c.1587T>A
2 papers
NM_138420.4
p.D552N
c.1654G>A
2 papers
NM_138420.4
p.T525A
c.1573A>G
2 papers
NM_138420.4
p.K522delFs
c.1564delT
1 paper
NM_138420.4
p.T566A
c.1696A>G
1 paper
NM_138420.4
p.R513Q
c.1538G>A
1 paper
NM_138420.4
p.P511Q
c.1532C>A
1 paper
NM_138420.4
p.D575H
c.1723G>C
1 paper
NM_138420.4
p.P502A
c.1504C>G
1 paper
NM_138420.4
p.R581G
c.1741A>G
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