Varaico: Literature-Extracted Genetic Variants

Gene:SAXO1

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
1–12 of 53 variants
4 papers
NM_153707.4
p.R323*
c.967C>T
3 papers
NM_153707.4
p.K27E
c.79A>G
3 papers
NM_153707.4
p.R275*
c.823C>T
2 papers
NM_153707.4
p.K126E
c.376A>G
2 papers
NM_153707.4
p.P267S
c.799C>T
2 papers
NM_153707.4
p.P324R
c.971C>G
1 paper
NM_153707.4
p.P21S
c.61C>T
1 paper
NM_153707.4
p.Y47delins
c.139_140delinsCG
1 paper
NM_153707.4
p.P63S
c.187C>T
1 paper
NM_153707.4
p.R73Splc
c.218+14G>A
1 paper
NM_153707.4
p.H87fs
c.259_260fs
1 paper
NM_153707.4
p.Q88fs
c.262_263fs
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