Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.E991Q

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
2 papers
NM_144696.6
p.E991Q
c.2971G>C
Surrounding Variants
1 paper
NM_144696.6
p.E991_Q992del1
c.2972_2974delAAC
3 papers
NM_144696.6
p.E991_Q992del2
c.2971_2975del6
3 papers
NM_144696.6
p.Q993E
c.2977C>G
1 paper
NM_144696.6
p.E990_Q992del3
c.2968_2975del9
10 papers
NM_144696.6
p.E991del1
c.2971_2973delGAA
5 papers
NM_144696.6
p.K987_E988del2
c.2959_2963del6
1 paper
NM_144696.6
p.S1004F
c.3011C>T
3 papers
NM_144696.6
p.D948G
c.2843A>G
1 paper
NM_144696.6
p.L933Splc
c.2798+3A>G
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
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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."