Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S4919S

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.S4919S
c.14757T>C
Surrounding Variants
1 paper
NM_138420.4
p.A4927T
c.14779G>A
1 paper
NM_138420.4
p.L4911fs
c.14731_14732fs
1 paper
NM_138420.4
p.L4929F
c.14787G>T
1 paper
NM_138420.4
p.L4929F
c.14787G>C
1 paper
NM_138420.4
p.Q4930H
c.14790G>T
1 paper
NM_138420.4
p.Q4930H
c.14790G>C
1 paper
NM_138420.4
p.P4940delFs
c.14819delG
1 paper
NM_138420.4
p.S4962L
c.14885C>T
1 paper
NM_138420.4
p.V4860E
c.14579T>A
1 paper
NM_138420.4
p.T4825delFs
c.14474_14475delTG
4 papers
NM_138420.4
p.P4821S
c.14461C>T
1 paper
NM_138420.4
p.G4815E
c.14444G>A
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