Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.G261R

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.G261R
c.781G>C
Surrounding Variants
2 papers
NM_015629.4
p.F262insFs
c.785dupT
2 papers
NM_015629.4
p.F262delFs
c.785delT
1 paper
NM_015629.4
p.F262fs
c.784_785fs
1 paper
NM_015629.4
p.F262delFs
c.785_786delTC
1 paper
NM_015629.4
p.F262S
c.785T>C
1 paper
NM_015629.4
p.L259_S260delFs
c.777_778delGT
1 paper
NM_015629.4
p.S263fs
c.787_788fs
2 papers
NM_015629.4
p.S263S
c.789G>A
2 papers
NM_015629.4
p.T258Fs
c.772_773delinsCAACATGCAACATCATFs
6 papers
NM_015629.4
p.T258fs
c.772_773fs
1 paper
NM_015629.4
p.T258Fs
c.772_773delinsCFs
2 papers
NM_015629.4
p.K257fs
c.769_770fs
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