Varaico: Literature-Extracted Genetic Variants

Gene:AXDND1
Variant:p.I522L

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
4 papers
NM_144696.6
p.I522L
c.1564A>C
Surrounding Variants
2 papers
NM_144696.6
p.L536Q
c.1607T>A
1 paper
NM_144696.6
p.D540N
c.1618G>A
2 papers
NM_144696.6
p.I544V
c.1630A>G
1 paper
NM_144696.6
p.E550G
c.1649A>G
1 paper
NM_144696.6
p.E569delFs
c.1705delG
1 paper
NM_144696.6
p.E569V
c.1706A>T
1 paper
NM_144696.6
p.S572A
c.1714T>G
1 paper
NM_144696.6
p.R574*
c.1720C>T
1 paper
NM_144696.6
p.Y588fs
c.1762_1763fs
1 paper
NM_144696.6
p.Y588insFs
c.1762_1763ins11
1 paper
NM_144696.6
p.E590*
c.1768G>T
1 paper
NM_144696.6
p.E592K
c.1774G>A
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