Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R293fs

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
2 papers
NM_015629.4
p.R293fs
c.877_878fs
Surrounding Variants
1 paper
NM_015629.4
p.A292T
c.874G>A
1 paper
NM_015629.4
p.A292_R293ins0
c.875_877dupCCC
2 papers
NM_015629.4
p.R293delFs
c.877delC
5 papers
NM_015629.4
p.R293_R304delFs
c.877_910del34
1 paper
NM_015629.4
p.A291V
c.872C>T
1 paper
NM_015629.4
p.A291T
c.871G>A
4 papers
NM_015629.4
p.A291P
c.871G>C
2 papers
NM_015629.4
p.A291_C299insFs
c.873_897dup25
1 paper
NM_015629.4
p.A302_A303ins6
c.906_907ins18
1 paper
NM_015629.4
p.R289P
c.866G>C
1 paper
NM_015629.4
p.R289fs
c.865_866fs
4 papers
NM_015629.4
p.R289fs
c.865_866fs
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