Varaico: Literature-Extracted Genetic Variants

Gene:SAXO4
Variant:p.R129W

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
2 papers
NM_145017.3
p.R129W
c.385C>T
Surrounding Variants
1 paper
NM_145017.3
p.R129Q
c.386G>A
1 paper
NM_145017.3
p.D134fs
c.400_401fs
1 paper
NM_145017.3
p.D134_E137delFs
c.402_411del10
1 paper
NM_145017.3
p.E137K
c.409G>A
1 paper
NM_145017.3
p.T144M
c.431C>T
1 paper
NM_145017.3
p.P152S
c.454C>T
1 paper
NM_145017.3
p.Q158R
c.473A>G
1 paper
NM_145017.3
p.S181_Y183delins
c.543_547delinsTTGAT
1 paper
NM_145017.3
p.G200S
c.598G>A
1 paper
NM_145017.3
p.R269*
c.805C>T
1 paper
NM_145017.3
p.A121P
c.361G>C
1 paper
NM_145017.3
p.P277H
c.830C>A
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