Varaico: Literature-Extracted Genetic Variants

Gene:SAXO1
Variant:p.C230C

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
1 paper
NM_153707.4
p.C230C
c.690T>C
Surrounding Variants
1 paper
NM_153707.4
p.I232fs
c.694_695fs
1 paper
NM_153707.4
p.I232I
c.696C>A
1 paper
NM_153707.4
p.F234Y
c.701T>A
1 paper
NM_153707.4
p.R245_G249delFs
c.734_746del13
1 paper
NM_153707.4
p.A252S
c.754G>T
1 paper
NM_153707.4
p.L258L
c.772C>T
1 paper
NM_153707.4
p.A259G
c.776C>G
1 paper
NM_153707.4
p.C197Y
c.590G>A
2 papers
NM_153707.4
p.P267S
c.799C>T
1 paper
NM_153707.4
p.P190fs
c.568_569fs
3 papers
NM_153707.4
p.R275*
c.823C>T
1 paper
NM_153707.4
p.K180*
c.538A>T
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