Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.M30_M31insFs

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.M30_M31insFs
c.90_91ins4
Surrounding Variants
1 paper
NM_001164688.2
p.M30I
c.90G>A
1 paper
NM_001164688.2
p.M31R
c.92T>G
1 paper
NM_001164688.2
p.E32K
c.94G>A
1 paper
NM_001164688.2
p.E32fs
c.94_95fs
2 papers
NM_001164688.2
p.L29F
c.85C>T
3 papers
NM_001164688.2
p.T28T
c.84G>A
1 paper
NM_001164688.2
p.T28M
c.83C>T
1 paper
NM_001164688.2
p.T28R
c.83C>G
2 papers
NM_001164688.2
p.T34M
c.101C>T
3 papers
NM_001164688.2
p.G35R
c.103G>C
3 papers
NM_001164688.2
p.G35R
c.103G>A
1 paper
NM_001164688.2
p.M24delFs
c.72delC
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