Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.F4628L

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.F4628L
c.13884T>A
Surrounding Variants
1 paper
NM_138420.4
p.F4628L
c.13884T>G
1 paper
NM_138420.4
p.Q4629E
c.13885C>G
1 paper
NM_138420.4
p.F4628L
c.13882T>C
1 paper
NM_138420.4
p.K4632Q
c.13894A>C
1 paper
NM_138420.4
p.T4635M
c.13904C>T
1 paper
NM_138420.4
p.D4620E
c.13860T>G
1 paper
NM_138420.4
p.W4640*
c.13919G>A
1 paper
NM_138420.4
p.W4640*
c.13920G>A
1 paper
NM_138420.4
p.A4608V
c.13823C>T
1 paper
NM_138420.4
p.S4593R
c.13779C>G
1 paper
NM_138420.4
p.S4593R
c.13779C>A
5 papers
NM_138420.4
p.T4664A
c.13990A>G
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