Varaico: Literature-Extracted Genetic Variants

Gene:SAXO1
Variant:p.R275*

SAXO1

50 papers

Pfam Domains

SAXO1-2aa 1–409UCSCStabilizer of axonemal microtubules 1/2
SAXO1-2aa 1–474UCSCStabilizer of axonemal microtubules 1/2

Gene Aliases

HGNC Name

stabilizer of axonemal microtubules 1

HGNC Previous Symbols

C9orf138; FAM154A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_153707.4
p.R275*
c.823C>T
Surrounding Variants
2 papers
NM_153707.4
p.P267S
c.799C>T
1 paper
NM_153707.4
p.A259G
c.776C>G
1 paper
NM_153707.4
p.L258L
c.772C>T
1 paper
NM_153707.4
p.P297P
c.891C>A
1 paper
NM_153707.4
p.E298*
c.892G>T
1 paper
NM_153707.4
p.A252S
c.754G>T
1 paper
NM_153707.4
p.R245_G249delFs
c.734_746del13
1 paper
NM_153707.4
p.R300K
c.899G>A
1 paper
NM_153707.4
p.A309V
c.926C>T
1 paper
NM_153707.4
p.H310fs
c.928_929fs
1 paper
NM_153707.4
p.H310_P314delFs
c.929_941del13
1 paper
NM_153707.4
p.F234Y
c.701T>A
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