Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.V80fs

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
1 paper
NM_015629.4
p.V80fs
c.238_239fs
Surrounding Variants
1 paper
NM_015629.4
p.V80Splc
c.239-1G>A
2 papers
NM_015629.4
p.G82delFs
c.245delG
2 papers
NM_015629.4
p.G82R
c.244G>A
2 papers
NM_015629.4
p.G82R
c.244G>C
1 paper
NM_015629.4
p.G82delFs
c.245_246delGA
2 papers
NM_015629.4
p.G82fs
c.244_245fs
1 paper
NM_015629.4
p.G82E
c.245G>A
1 paper
NM_015629.4
p.G82A
c.245G>C
2 papers
NM_015629.4
p.G82G
c.246A>T
1 paper
NM_015629.4
p.P83Q
c.248C>A
1 paper
NM_015629.4
p.A87T
c.259G>A
1 paper
NM_015629.4
p.P88L
c.263C>T
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