Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.G116R

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.G116R
c.346G>C
Surrounding Variants
1 paper
NM_001620.3
p.G116R
c.346G>A
1 paper
NM_001620.3
p.L114_S115Splc
c.343-1G>T
1 paper
NM_001620.3
p.T127M
c.380C>T
1 paper
NM_001620.3
p.R132W
c.394C>T
1 paper
NM_001620.3
p.R132Q
c.395G>A
1 paper
NM_001620.3
p.V139L
c.415G>C
1 paper
NM_001620.3
p.E145Q
c.433G>C
1 paper
NM_001620.3
p.E145delFs
c.434_435delCT
1 paper
NM_001620.3
p.S148I
c.443G>T
1 paper
NM_001620.3
p.R149C
c.445C>T
1 paper
NM_001620.3
p.R149L
c.446G>T
2 papers
NM_001620.3
p.T158M
c.473C>T
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