Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.H328Q

AXDND1

109 papers

Pfam Domains

Ax_dynein_lightaa 200–392UCSCAxonemal dynein light chain

Gene Aliases

HGNC Name

axonemal dynein light chain domain containing 1

HGNC Previous Symbol

C1orf125

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144696.6
p.H328Q
c.984T>G
Surrounding Variants
1 paper
NM_144696.6
p.H328Q
c.984T>A
5 papers
NM_144696.6
p.V329_I330delFs
c.987_988delTA
1 paper
NM_144696.6
p.I330_E331del1
c.990_992delTGA
1 paper
NM_144696.6
p.E331delFs
c.991_992delGA
1 paper
NM_144696.6
p.Y324C
c.971A>G
1 paper
NM_144696.6
p.L323F
c.969G>C
1 paper
NM_144696.6
p.L323F
c.969G>T
1 paper
NM_144696.6
p.E321*
c.961G>T
2 papers
NM_144696.6
p.R318H
c.953G>A
1 paper
NM_144696.6
p.V314L
c.940G>C
1 paper
NM_144696.6
p.V314L
c.940G>T
1 paper
NM_144696.6
p.R313Q
c.938G>A
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