Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.V1169L

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.V1169L
c.3505G>T
Surrounding Variants
1 paper
NM_001620.3
p.V1169L
c.3505G>C
1 paper
NM_001620.3
p.K1161N
c.3483G>T
1 paper
NM_001620.3
p.K1161N
c.3483G>C
1 paper
NM_001620.3
p.S1158S
c.3474A>T
1 paper
NM_001620.3
p.G1180V
c.3539G>T
1 paper
NM_001620.3
p.H1203R
c.3608A>G
1 paper
NM_001620.3
p.L1204M
c.3610T>A
1 paper
NM_001620.3
p.P1132P
c.3396C>G
1 paper
NM_001620.3
p.G1206G
c.3618C>G
1 paper
NM_001620.3
p.K1208E
c.3622A>G
1 paper
NM_001620.3
p.K1125delFs
c.3373delT
2 papers
NM_001620.3
p.V1213M
c.3637G>A
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