Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R289fs

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
4 papers
NM_015629.4
p.R289fs
c.865_866fs
Surrounding Variants
1 paper
NM_015629.4
p.R289fs
c.865_866fs
4 papers
NM_015629.4
p.R289_R293delFs
c.866_879del14
1 paper
NM_015629.4
p.R289P
c.866G>C
2 papers
NM_015629.4
p.R288P
c.863G>C
3 papers
NM_015629.4
p.R288W
c.862C>T
2 papers
NM_015629.4
p.A291_C299insFs
c.873_897dup25
1 paper
NM_015629.4
p.A291T
c.871G>A
4 papers
NM_015629.4
p.A291P
c.871G>C
1 paper
NM_015629.4
p.A291V
c.872C>T
1 paper
NM_015629.4
p.D286insFs
c.858dupT
1 paper
NM_015629.4
p.A292T
c.874G>A
1 paper
NM_015629.4
p.A292_R293ins0
c.875_877dupCCC
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