Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.C93S

RD3

98 papers

RefSeq Summary

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease ...

Pfam Domains

RD3aa 6–133UCSCRD3 protein

Gene Aliases

HGNC Name

RD3 regulator of GUCY2D

HGNC Previous Symbol

C1orf36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164688.2
p.C93S
c.277T>A
Surrounding Variants
1 paper
NM_001164688.2
p.C93R
c.277T>C
1 paper
NM_001164688.2
p.C93S
c.278G>C
1 paper
NM_001164688.2
p.G94A
c.281G>C
1 paper
NM_001164688.2
p.S91Y
c.272C>A
1 paper
NM_001164688.2
p.P95S
c.283C>T
1 paper
NM_001164688.2
p.P95L
c.284C>T
1 paper
NM_001164688.2
p.P90A
c.268C>G
1 paper
NM_001164688.2
p.P90_S91ins4
c.268_272ins12
1 paper
NM_001164688.2
p.A96A
c.288T>A
1 paper
NM_001164688.2
p.L98insFs
c.292dupC
1 paper
NM_001164688.2
p.L98R
c.293T>G
1 paper
NM_001164688.2
p.K87E
c.259A>G
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