Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.Q5040Q

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.Q5040Q
c.15120G>A
Surrounding Variants
1 paper
NM_001620.3
p.P5058fs
c.15172_15173fs
1 paper
NM_001620.3
p.L5007_T5009delFs
c.15019_15026del8
1 paper
NM_001620.3
p.V5075M
c.15223G>A
1 paper
NM_001620.3
p.I4991T
c.14972T>C
1 paper
NM_001620.3
p.A4984P
c.14950G>C
1 paper
NM_001620.3
p.K5098*
c.15292A>T
1 paper
NM_001620.3
p.E5116E
c.15348A>G
1 paper
NM_001620.3
p.A5119S
c.15355G>T
1 paper
NM_001620.3
p.D4962Y
c.14884G>T
1 paper
NM_001620.3
p.H4957_S4960delFs
c.14871_14878del8
1 paper
NM_001620.3
p.L5122R
c.15365T>G
1 paper
NM_001620.3
p.L5122P
c.15365T>C
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