Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K1481R

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
5 papers
NM_001620.3
p.K1481R
c.4442A>G
Surrounding Variants
1 paper
NM_001620.3
p.E1479V
c.4436A>T
3 papers
NM_001620.3
p.V1476A
c.4427T>C
2 papers
NM_001620.3
p.E1500D
c.4500G>T
2 papers
NM_001620.3
p.E1500D
c.4500G>C
1 paper
NM_001620.3
p.M1515fs
c.4543_4544fs
1 paper
NM_001620.3
p.S1445N
c.4334G>A
1 paper
NM_001620.3
p.F1518Y
c.4553T>A
1 paper
NM_001620.3
p.K1438N
c.4314A>T
1 paper
NM_001620.3
p.K1438N
c.4314A>C
1 paper
NM_001620.3
p.G1522_F1523del0
c.4564_4569del6
1 paper
NM_001620.3
p.E1526K
c.4576G>A
1 paper
NM_001620.3
p.P1528S
c.4582C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."