Varaico: Literature-Extracted Genetic Variants

Gene:LCA5
Variant:p.R35*

LCA5

197 papers

RefSeq Summary

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variant...

Pfam Domains

Lebercilinaa 100–292UCSCCiliary protein causing Leber congenital amaurosis disease

Gene Aliases

HGNC Name

lebercilin LCA5

HGNC Previous Symbol

C6orf152

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001122769.3
p.R35*
c.103C>T
Surrounding Variants
1 paper
NM_001122769.3
p.S36*
c.107C>G
1 paper
NM_001122769.3
p.L38L
c.112C>T
1 paper
NM_001122769.3
p.Q31insFs
c.91dupC
1 paper
NM_001122769.3
p.V39A
c.116T>C
1 paper
NM_001122769.3
p.Y23_E28delFs
c.67_83del17
6 papers
NM_001122769.3
p.D26A
c.77A>C
1 paper
NM_001122769.3
p.A44E
c.131C>A
1 paper
NM_001122769.3
p.S45_V46insFs
c.135_136insC
8 papers
NM_001122769.3
p.L24S
c.71T>C
1 paper
NM_001122769.3
p.Y23insFs
c.69dupC
1 paper
NM_001122769.3
p.V46F
c.136G>T
2 papers
NM_001122769.3
p.S42_S45del4
c.124_134del12
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