Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.P1544P

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.P1544P
c.4632C>G
Surrounding Variants
1 paper
NM_001620.3
p.P1544R
c.4631C>G
1 paper
NM_001620.3
p.G1543G
c.4629A>T
1 paper
NM_001620.3
p.D1552H
c.4654G>C
1 paper
NM_001620.3
p.L1534L
c.4600C>T
1 paper
NM_001620.3
p.E1529*
c.4585G>T
1 paper
NM_001620.3
p.P1528S
c.4582C>T
1 paper
NM_001620.3
p.E1526K
c.4576G>A
1 paper
NM_001620.3
p.G1522_F1523del0
c.4564_4569del6
1 paper
NM_001620.3
p.F1518Y
c.4553T>A
1 paper
NM_001620.3
p.M1515fs
c.4543_4544fs
5 papers
NM_001620.3
p.T1576M
c.4727C>T
2 papers
NM_001620.3
p.E1500D
c.4500G>T
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