Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.E113Q

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.E113Q
c.337G>C
Surrounding Variants
1 paper
NM_001164688.2
p.V114M
c.340G>A
1 paper
NM_001164688.2
p.Q112E
c.334C>G
1 paper
NM_001164688.2
p.E106_V111del6
c.316_332del18
1 paper
NM_001164688.2
p.E113_V114insFs
c.339_340insG
2 papers
NM_001164688.2
p.E108K
c.322G>A
5 papers
NM_001164688.2
p.Q107*
c.319C>T
1 paper
NM_001164688.2
p.R119S
c.355C>A
1 paper
NM_001164688.2
p.E106E
c.318G>A
1 paper
NM_001164688.2
p.E106K
c.316G>A
1 paper
NM_001164688.2
p.V121insFs
c.361_362insT
1 paper
NM_001164688.2
p.L104P
c.311T>C
1 paper
NM_001164688.2
p.L103R
c.308T>G
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