Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.T66K

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.T66K
c.197C>A
Surrounding Variants
4 papers
NM_001164688.2
p.R68W
c.202C>T
1 paper
NM_001164688.2
p.P67insFs
c.200_201insC
1 paper
NM_001164688.2
p.L63insFs
c.188_189insTA
1 paper
NM_001164688.2
p.S69Y
c.206C>A
1 paper
NM_001164688.2
p.S61I
c.182G>T
3 papers
NM_001164688.2
p.Y60*
c.180C>G
3 papers
NM_001164688.2
p.Y60*
c.180C>A
5 papers
NM_001164688.2
p.G57V
c.170G>T
2 papers
NM_001164688.2
p.P75R
c.224C>G
1 paper
NM_001164688.2
p.R78W
c.232C>T
3 papers
NM_001164688.2
p.L79L
c.235T>C
1 paper
NM_001164688.2
p.L79W
c.236T>G
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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."