Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.R47C

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
9 papers
NM_001164688.2
p.R47C
c.139C>T
Surrounding Variants
1 paper
NM_001164688.2
p.E46delFs
c.137_138delCT
1 paper
NM_001164688.2
p.R47H
c.140G>A
1 paper
NM_001164688.2
p.R47R
c.141C>T
5 papers
NM_001164688.2
p.E46*
c.136G>T
1 paper
NM_001164688.2
p.E46fs
c.136_137fs
1 paper
NM_001164688.2
p.N49I
c.146A>T
1 paper
NM_001164688.2
p.A50V
c.149C>T
1 paper
NM_001164688.2
p.Q43R
c.128A>G
1 paper
NM_001164688.2
p.V51I
c.151G>A
1 paper
NM_001164688.2
p.Q43*
c.127C>T
1 paper
NM_001164688.2
p.E41A
c.122A>C
1 paper
NM_001164688.2
p.R38Q
c.113G>A
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