Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.H270insFs

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
3 papers
NM_015629.4
p.H270insFs
c.808_809insC
Surrounding Variants
1 paper
NM_015629.4
p.P269_H270delFs
c.805_809del5
4 papers
NM_015629.4
p.P269_Y273del5
c.805_818del15
2 papers
NM_015629.4
p.L268delFs
c.804delG
2 papers
NM_015629.4
p.L268fs
c.802_803fs
1 paper
NM_015629.4
p.P269L
c.806C>T
1 paper
NM_015629.4
p.H270D
c.808C>G
1 paper
NM_015629.4
p.H270fs
c.808_809fs
1 paper
NM_015629.4
p.S266fs
c.796_797fs
1 paper
NM_015629.4
p.T265T
c.795C>A
3 papers
NM_015629.4
p.G272_S277del0
c.816_830del15
1 paper
NM_015629.4
p.T265delFs
c.795delC
4 papers
NM_015629.4
p.G272V
c.815G>T
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