Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.P1692fs

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.P1692fs
c.5074_5075fs
Surrounding Variants
1 paper
NM_001620.3
p.I1696del1
c.5086_5087delAAT
1 paper
NM_001620.3
p.A1698V
c.5093C>T
1 paper
NM_001620.3
p.D1686Y
c.5056G>T
1 paper
NM_001620.3
p.V1703A
c.5108T>C
1 paper
NM_001620.3
p.E1679G
c.5036A>G
1 paper
NM_001620.3
p.P1676delins
c.5026delinsT
1 paper
NM_001620.3
p.K1711K
c.5133A>G
1 paper
NM_001620.3
p.K1666R
c.4997A>G
1 paper
NM_001620.3
p.K1649R
c.4946A>G
1 paper
NM_001620.3
p.L1736L
c.5208G>A
1 paper
NM_001620.3
p.H1647fs
c.4939_4940fs
1 paper
NM_001620.3
p.G1745A
c.5234G>C
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