Varaico: Literature-Extracted Genetic Variants

Gene:PRCD
Variant:p.Q24*

PRCD

75 papers

RefSeq Summary

This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript varia...

Pfam Domains

Rod_cone_degenaa 1–54UCSCProgressive rod-cone degeneration

Gene Aliases

HGNC Name

photoreceptor disc component

HGNC Alias Symbol

RP36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001077620.3
p.Q24*
c.70C>T
Surrounding Variants
4 papers
NM_001077620.3
p.P25T
c.73C>A
2 papers
NM_001077620.3
p.P25S
c.73C>T
1 paper
NM_001077620.3
p.V23delFs
c.67delG
3 papers
NM_001077620.3
p.P25L
c.74C>T
1 paper
NM_001077620.3
p.P25Splc
c.74+1G>A
13 papers
NM_001077620.3
p.R22*
c.64C>T
1 paper
NM_001077620.3
p.P25Splc
c.74+5G>C
5 papers
NM_001077620.3
p.R18*
c.52C>T
6 papers
NM_001077620.3
p.R17C
c.49C>T
1 paper
NM_001077620.3
p.T10I
c.29C>T
1 paper
NM_001077620.3
p.L8fs
c.22_23fs
1 paper
NM_001077620.3
p.L8delFs
c.22delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."