Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.I222_I223del1

PRPF31

581 papers

RefSeq Summary

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provide...

Pfam Domains

Nopaa 99–330UCSCsnoRNA binding domain, fibrillarin
Prp31_Caa 337–465UCSCPrp31 C terminal domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 31

HGNC Previous Symbol

RP11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_015629.4
p.I222_I223del1
c.666_668delTAT
Surrounding Variants
3 papers
NM_015629.4
p.I222insFs
c.666dupT
5 papers
NM_015629.4
p.I223del1
c.667_668delATC
1 paper
NM_015629.4
p.I223insFs
c.668dupT
1 paper
NM_015629.4
p.S220F
c.659C>T
1 paper
NM_015629.4
p.I221_I222del1
c.663_665delCAT
3 papers
NM_015629.4
p.A225delFs
c.673delG
3 papers
NM_015629.4
p.G224R
c.670G>A
2 papers
NM_015629.4
p.G224R
c.670G>C
1 paper
NM_015629.4
p.N218K
c.654C>A
1 paper
NM_015629.4
p.N218K
c.654C>G
1 paper
NM_015629.4
p.A225T
c.673G>A
1 paper
NM_015629.4
p.A225P
c.673G>C
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."