Varaico: Literature-Extracted Genetic Variants

Gene:LCA5L

LCA5L

29 papers

Pfam Domains

Lebercilinaa 139–281UCSCCiliary protein causing Leber congenital amaurosis disease
Lebercilinaa 139–331UCSCCiliary protein causing Leber congenital amaurosis disease

Gene Aliases

HGNC Name

lebercilin LCA5 like

HGNC Previous Symbol

C21orf13

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
2 papers
NM_152505.4
p.S265C
c.794C>G
2 papers
NM_152505.4
p.E316K
c.946G>A
1 paper
NM_152505.4
p.A28A
c.84A>G
1 paper
NM_152505.4
p.D37N
c.109G>A
1 paper
NM_152505.4
p.S42N
c.125G>A
1 paper
NM_152505.4
p.S54A
c.160T>G
1 paper
NM_152505.4
p.S57F
c.170C>T
1 paper
NM_152505.4
p.V100V
c.300T>A
1 paper
NM_152505.4
p.Q109H
c.327G>T
1 paper
NM_152505.4
p.Q109H
c.327G>C
1 paper
NM_152505.4
p.E111K
c.331G>A
1 paper
NM_152505.4
p.S113S
c.339A>G
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