Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.L860P

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.L860P
c.2579T>C
Surrounding Variants
1 paper
NM_144696.6
p.Q861H
c.2583G>C
1 paper
NM_144696.6
p.Q861H
c.2583G>T
1 paper
NM_144696.6
p.R867K
c.2600G>A
4 papers
NM_144696.6
p.A868T
c.2602G>A
1 paper
NM_144696.6
p.R883*
c.2647C>T
1 paper
NM_144696.6
p.R883Q
c.2648G>A
1 paper
NM_144696.6
p.H892Y
c.2674C>T
1 paper
NM_144696.6
p.W905L
c.2714G>T
1 paper
NM_144696.6
p.W905_R906Splc
c.2715+4T>G
1 paper
NM_144696.6
p.W905_R906Splc
c.2716-2A>T
1 paper
NM_144696.6
p.W905_R906Splc
c.2716-1G>A
1 paper
NM_144696.6
p.L919V
c.2755C>G
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