Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.H2125N

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.H2125N
c.6373C>A
Surrounding Variants
1 paper
NM_001620.3
p.L2126fs
c.6376_6377fs
1 paper
NM_001620.3
p.D2123N
c.6367G>A
1 paper
NM_001620.3
p.G2133R
c.6397G>C
1 paper
NM_001620.3
p.G2133R
c.6397G>A
1 paper
NM_001620.3
p.V2135M
c.6403G>A
2 papers
NM_001620.3
p.A2114T
c.6340G>A
2 papers
NM_001620.3
p.L2105F
c.6313C>T
1 paper
NM_001620.3
p.L2146I
c.6436T>A
1 paper
NM_001620.3
p.L2100P
c.6299T>C
1 paper
NM_001620.3
p.E2094Q
c.6280G>C
1 paper
NM_001620.3
p.D2164V
c.6491A>T
1 paper
NM_001620.3
p.S2080*
c.6239C>G
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