Varaico: Literature-Extracted Genetic Variants

Gene:SAXO4
Variant:p.Y53H

SAXO4

38 papers

Pfam Domains

PPP1R32aa 2–416UCSCProtein phosphatase 1 regulatory subunit 32

Gene Aliases

HGNC Name

stabilizer of axonemal microtubules 4

HGNC Previous Symbols

C11orf66; PPP1R32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145017.3
p.Y53H
c.157T>C
Surrounding Variants
1 paper
NM_145017.3
p.Y53F
c.158A>T
1 paper
NM_145017.3
p.G52S
c.154G>A
1 paper
NM_145017.3
p.G50D
c.149G>A
3 papers
NM_145017.3
p.V49L
c.145G>C
3 papers
NM_145017.3
p.V49L
c.145G>T
1 paper
NM_145017.3
p.G46R
c.136G>C
2 papers
NM_145017.3
p.R44H
c.131G>A
1 paper
NM_145017.3
p.P73P
c.219G>T
1 paper
NM_145017.3
p.Q80*
c.238C>T
1 paper
NM_145017.3
p.H101N
c.301C>A
1 paper
NM_145017.3
p.R108C
c.322C>T
1 paper
NM_145017.3
p.A121P
c.361G>C
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