Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.S760R

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.S760R
c.2280C>G
Surrounding Variants
1 paper
NM_144696.6
p.S760R
c.2280C>A
1 paper
NM_144696.6
p.S760R
c.2278A>C
1 paper
NM_144696.6
p.S764N
c.2291G>A
1 paper
NM_144696.6
p.S764Splc
c.2291+8G>A
1 paper
NM_144696.6
p.A748V
c.2243C>T
2 papers
NM_144696.6
p.R743*
c.2227C>T
4 papers
NM_144696.6
p.A742V
c.2225C>T
1 paper
NM_144696.6
p.C765Y
c.2294G>A
1 paper
NM_144696.6
p.Y790C
c.2369A>G
1 paper
NM_144696.6
p.H696R
c.2087A>G
1 paper
NM_144696.6
p.Q695H
c.2085G>C
1 paper
NM_144696.6
p.Q695H
c.2085G>T
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