Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.L4804L

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.L4804L
c.14410C>T
Surrounding Variants
1 paper
NM_001620.3
p.P4791L
c.14372C>T
1 paper
NM_001620.3
p.V4818I
c.14452G>A
1 paper
NM_001620.3
p.D4822V
c.14465A>T
1 paper
NM_001620.3
p.I4825S
c.14474T>G
1 paper
NM_001620.3
p.A4830T
c.14488G>A
1 paper
NM_001620.3
p.P4774A
c.14320C>G
1 paper
NM_001620.3
p.P4835L
c.14504C>T
1 paper
NM_001620.3
p.K4836N
c.14508G>T
1 paper
NM_001620.3
p.K4836N
c.14508G>C
1 paper
NM_001620.3
p.P4861P
c.14583C>A
1 paper
NM_001620.3
p.F4867insFs
c.14601dupT
1 paper
NM_001620.3
p.L4878F
c.14634G>T
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