Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.T138_V139del2

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.T138_V139del2
c.412_416del6
Surrounding Variants
1 paper
NM_015629.4
p.R137H
c.410G>A
1 paper
NM_015629.4
p.R137_T138insT
c.409_413ins3
7 papers
NM_015629.4
p.T138K
c.413C>A
1 paper
NM_015629.4
p.V139L
c.415G>C
1 paper
NM_015629.4
p.V139V
c.417C>A
1 paper
NM_015629.4
p.V139V
c.417C>T
2 papers
NM_015629.4
p.D134H
c.400G>C
2 papers
NM_015629.4
p.D134fs
c.400_401fs
1 paper
NM_015629.4
p.K140_E141Splc
c.420+1G>T
3 papers
NM_015629.4
p.D134delFs
c.400delG
3 papers
NM_015629.4
p.K140_E141Splc
c.420+6C>T
1 paper
NM_015629.4
p.N131_A132insFs
c.393_394insA
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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."