Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.E549E

AHNAK

368 papers

RefSeq Summary

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as b...

Gene Aliases

HGNC Name

AHNAK nucleoprotein

HGNC Alias Symbols

MGC5395; AHNAK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001620.3
p.E549E
c.1647G>A
Surrounding Variants
1 paper
NM_001620.3
p.K537Q
c.1609A>C
1 paper
NM_001620.3
p.S559_G562del4
c.1675_1685del12
1 paper
NM_001620.3
p.A535T
c.1603G>A
1 paper
NM_001620.3
p.T564T
c.1692C>T
1 paper
NM_001620.3
p.K563_T564del2
c.1687_1691del6
1 paper
NM_001620.3
p.Q526R
c.1577A>G
1 paper
NM_001620.3
p.P523A
c.1567C>G
1 paper
NM_001620.3
p.G586S
c.1756G>A
1 paper
NM_001620.3
p.P592R
c.1775C>G
1 paper
NM_001620.3
p.K597*
c.1789A>T
1 paper
NM_001620.3
p.K599R
c.1796A>G
1 paper
NM_001620.3
p.Q496K
c.1486C>A
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