Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.D165A

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.D165A
c.494A>C
Surrounding Variants
1 paper
NM_001164688.2
p.I166I
c.498C>T
1 paper
NM_001164688.2
p.I166M
c.498C>G
5 papers
NM_001164688.2
p.R167K
c.500G>A
1 paper
NM_001164688.2
p.F162F
c.486C>T
2 papers
NM_001164688.2
p.S170F
c.509C>T
1 paper
NM_001164688.2
p.E171K
c.511G>A
1 paper
NM_001164688.2
p.I159T
c.476T>C
1 paper
NM_001164688.2
p.K154_T155del1
c.461_463delTCT
1 paper
NM_001164688.2
p.A151delFs
c.453delG
1 paper
NM_001164688.2
p.A151delFs
c.451delC
1 paper
NM_001164688.2
p.A151S
c.451G>T
1 paper
NM_001164688.2
p.P180T
c.538C>A
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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."