Varaico: Literature-Extracted Genetic Variants

Gene:RD3

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
1–12 of 117 variants
12 papers
NM_001164688.2
p.R38*
c.112C>T
9 papers
NM_001164688.2
p.R47C
c.139C>T
7 papers
NM_001164688.2
p.W6R
c.16T>C
7 papers
NM_001164688.2
p.W6R
c.16T>A
6 papers
NM_001164688.2
p.D195V
c.584A>T
5 papers
NM_001164688.2
p.E23D
c.69G>T
5 papers
NM_001164688.2
p.E23D
c.69G>C
5 papers
NM_001164688.2
p.E46*
c.136G>T
5 papers
NM_001164688.2
p.G57V
c.170G>T
5 papers
NM_001164688.2
p.Q107*
c.319C>T
5 papers
NM_001164688.2
p.R167K
c.500G>A
4 papers
NM_001164688.2
p.R68W
c.202C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."