Varaico: Literature-Extracted Genetic Variants

Gene:SAXO1
Variant:p.A422V

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.A422V
c.1265C>T
Surrounding Variants
1 paper
NM_153707.4
p.C420R
c.1258T>C
1 paper
NM_001287049.2
p.E368K
c.1102G>A
1 paper
NM_153707.4
p.R397*
c.1189C>T
1 paper
NM_153707.4
p.R397G
c.1189C>G
1 paper
NM_153707.4
p.Q452*
c.1354C>T
1 paper
NM_153707.4
p.Q453*
c.1357C>T
1 paper
NM_153707.4
p.K390E
c.1168A>G
1 paper
NM_153707.4
p.S388T
c.1163G>C
1 paper
NM_153707.4
p.N464K
c.1392C>A
1 paper
NM_153707.4
p.D369D
c.1107C>T
1 paper
NM_153707.4
p.E353K
c.1057G>A
1 paper
NM_153707.4
p.K345R
c.1034A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."