Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K1125delFs

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.K1125delFs
c.3373delT
Surrounding Variants
1 paper
NM_001620.3
p.P1132P
c.3396C>G
1 paper
NM_001620.3
p.A1112V
c.3335C>T
1 paper
NM_001620.3
p.D1109V
c.3326A>T
1 paper
NM_001620.3
p.G1105S
c.3313G>A
1 paper
NM_001620.3
p.I1103M
c.3309C>G
6 papers
NM_001620.3
p.V1098F
c.3292G>T
1 paper
NM_001620.3
p.S1158S
c.3474A>T
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.G1083_N1084delFs
c.3247_3251del5
1 paper
NM_001620.3
p.V1169L
c.3505G>T
1 paper
NM_001620.3
p.V1169L
c.3505G>C
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