Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.L933Splc

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.L933Splc
c.2798+3A>G
Surrounding Variants
1 paper
NM_144696.6
p.E930D
c.2790G>C
1 paper
NM_144696.6
p.E930D
c.2790G>T
1 paper
NM_144696.6
p.I925T
c.2774T>C
1 paper
NM_144696.6
p.A923T
c.2767G>A
1 paper
NM_144696.6
p.L919V
c.2755C>G
1 paper
NM_144696.6
p.W905_R906Splc
c.2716-1G>A
1 paper
NM_144696.6
p.W905_R906Splc
c.2716-2A>T
3 papers
NM_144696.6
p.D948G
c.2843A>G
5 papers
NM_144696.6
p.K987_E988del2
c.2959_2963del6
10 papers
NM_144696.6
p.E991del1
c.2971_2973delGAA
1 paper
NM_144696.6
p.E990_Q992del3
c.2968_2975del9
3 papers
NM_144696.6
p.E991_Q992del2
c.2971_2975del6
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