Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.R1272P

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.R1272P
c.3815G>C
Surrounding Variants
1 paper
NM_001620.3
p.G1271_R1272insFs
c.3811_3815dup5
2 papers
NM_001620.3
p.V1274A
c.3821T>C
1 paper
NM_001620.3
p.G1269A
c.3806G>C
1 paper
NM_001620.3
p.P1265A
c.3793C>G
1 paper
NM_001620.3
p.Q1246E
c.3736C>G
1 paper
NM_001620.3
p.D1237N
c.3709G>A
1 paper
NM_001620.3
p.V1229G
c.3686T>G
2 papers
NM_001620.3
p.D1228N
c.3682G>A
1 paper
NM_001620.3
p.E1221K
c.3661G>A
2 papers
NM_001620.3
p.V1213M
c.3637G>A
1 paper
NM_001620.3
p.G1334G
c.4002G>A
1 paper
NM_001620.3
p.K1208E
c.3622A>G
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