Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.E5572E

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.E5572E
c.16716A>G
Surrounding Variants
1 paper
NM_138420.4
p.E5575D
c.16725G>T
1 paper
NM_138420.4
p.E5575D
c.16725G>C
1 paper
NM_138420.4
p.N5582S
c.16745A>G
1 paper
NM_138420.4
p.Q5540*
c.16618C>T
3 papers
NM_138420.4
p.T5530M
c.16589C>T
1 paper
NM_138420.4
p.P5616delFs
c.16847delG
1 paper
NM_138420.4
p.P5616delFs
c.16848delA
1 paper
NM_138420.4
p.S5619R
c.16855A>C
1 paper
NM_138420.4
p.S5619R
c.16857C>G
1 paper
NM_138420.4
p.S5619R
c.16857C>A
1 paper
NM_138420.4
p.S5519S
c.16557C>A
1 paper
NM_138420.4
p.L5626M
c.16876C>A
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