Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.W6R

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
7 papers
NM_001164688.2
p.W6R
c.16T>C
Surrounding Variants
7 papers
NM_001164688.2
p.W6R
c.16T>A
1 paper
NM_001164688.2
p.W6L
c.17G>T
1 paper
NM_001164688.2
p.I4I
c.12C>A
2 papers
NM_001164688.2
p.R8Q
c.23G>A
1 paper
NM_001164688.2
p.L3I
c.7C>A
1 paper
NM_001164688.2
p.W9L
c.26G>T
1 paper
NM_001164688.2
p.W9*
c.27G>A
1 paper
NM_001164688.2
p.M1insFs
c.3dupG
1 paper
NM_001164688.2
p.M1_S2insFs
c.3_4insT
1 paper
NM_001164688.2
p.M1T
c.2T>C
1 paper
NM_001164688.2
p.E11K
c.31G>A
1 paper
NM_001164688.2
p.M1L
c.1A>C
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