Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.L1875P

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.L1875P
c.5624T>C
Surrounding Variants
1 paper
NM_138420.4
p.P1876S
c.5626C>T
2 papers
NM_138420.4
p.P1874Q
c.5621C>A
2 papers
NM_138420.4
p.C1872S
c.5615G>C
2 papers
NM_138420.4
p.C1872S
c.5614T>A
1 paper
NM_138420.4
p.D1870fs
c.5608_5609fs
1 paper
NM_138420.4
p.D1870delFs
c.5609delT
2 papers
NM_138420.4
p.D1870H
c.5608G>C
1 paper
NM_138420.4
p.V1881E
c.5642T>A
1 paper
NM_138420.4
p.L1866L
c.5598C>G
1 paper
NM_138420.4
p.E1856D
c.5568A>T
1 paper
NM_138420.4
p.E1856D
c.5568A>C
1 paper
NM_138420.4
p.A1855A
c.5565C>T
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