Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.V4921F

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.V4921F
c.14761G>T
Surrounding Variants
1 paper
NM_001620.3
p.V4921A
c.14762T>C
1 paper
NM_001620.3
p.D4922H
c.14764G>C
1 paper
NM_001620.3
p.D4922fs
c.14764_14765fs
1 paper
NM_001620.3
p.D4922_H4924delFs
c.14765_14772del8
3 papers
NM_001620.3
p.P4928A
c.14782C>G
1 paper
NM_001620.3
p.G4934C
c.14800G>T
1 paper
NM_001620.3
p.H4957_S4960delFs
c.14871_14878del8
1 paper
NM_001620.3
p.D4962Y
c.14884G>T
1 paper
NM_001620.3
p.L4878F
c.14634G>T
1 paper
NM_001620.3
p.L4878F
c.14634G>C
1 paper
NM_001620.3
p.F4867insFs
c.14601dupT
1 paper
NM_001620.3
p.P4861P
c.14583C>A
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