Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.W4648C

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
2 papers
NM_001620.3
p.W4648C
c.13944G>C
Surrounding Variants
2 papers
NM_001620.3
p.W4648C
c.13944G>T
1 paper
NM_001620.3
p.P4663L
c.13988C>T
1 paper
NM_001620.3
p.D4631Y
c.13891G>T
1 paper
NM_001620.3
p.E4626K
c.13876G>A
1 paper
NM_001620.3
p.A4679V
c.14036C>T
1 paper
NM_001620.3
p.I4681V
c.14041A>G
1 paper
NM_001620.3
p.P4686L
c.14057C>T
1 paper
NM_001620.3
p.G4609fs
c.13825_13826fs
1 paper
NM_001620.3
p.K4608M
c.13823A>T
1 paper
NM_001620.3
p.D4691Y
c.14071G>T
1 paper
NM_001620.3
p.I4697V
c.14089A>G
1 paper
NM_001620.3
p.G4699S
c.14095G>A
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