Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E141insFs

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.E141insFs
c.422_423insA
Surrounding Variants
2 papers
NM_015629.4
p.E141fs
c.421_422fs
3 papers
NM_015629.4
p.E141*
c.421G>T
1 paper
NM_015629.4
p.E141fs
c.421_422fs
1 paper
NM_015629.4
p.E141G
c.422A>G
9 papers
NM_015629.4
p.K140_E141Splc
c.421-1G>A
1 paper
NM_015629.4
p.K140_E141Splc
c.421-2A>C
5 papers
NM_015629.4
p.K140_E141Splc
c.421-2A>G
1 paper
NM_015629.4
p.L142L
c.424C>T
1 paper
NM_015629.4
p.N144delFs
c.431delA
2 papers
NM_015629.4
p.S145delFs
c.433_434delAG
2 papers
NM_015629.4
p.S145fs
c.433_434fs
1 paper
NM_015629.4
p.L146_C149del0
c.436_447del12
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