Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.G57V

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
5 papers
NM_001164688.2
p.G57V
c.170G>T
Surrounding Variants
3 papers
NM_001164688.2
p.Y60*
c.180C>G
3 papers
NM_001164688.2
p.Y60*
c.180C>A
1 paper
NM_001164688.2
p.S61I
c.182G>T
1 paper
NM_001164688.2
p.L63insFs
c.188_189insTA
1 paper
NM_001164688.2
p.V51I
c.151G>A
1 paper
NM_001164688.2
p.A50V
c.149C>T
1 paper
NM_001164688.2
p.N49I
c.146A>T
1 paper
NM_001164688.2
p.T66K
c.197C>A
1 paper
NM_001164688.2
p.R47R
c.141C>T
1 paper
NM_001164688.2
p.R47H
c.140G>A
9 papers
NM_001164688.2
p.R47C
c.139C>T
1 paper
NM_001164688.2
p.E46delFs
c.137_138delCT
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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."