Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E79insFs

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.E79insFs
c.236_237insG
Surrounding Variants
1 paper
NM_015629.4
p.E79D
c.237A>C
1 paper
NM_015629.4
p.E79D
c.237A>T
2 papers
NM_015629.4
p.V80Splc
c.238+1G>A
2 papers
NM_015629.4
p.V80Splc
c.238+1G>T
1 paper
NM_015629.4
p.V80Splc
c.238+2T>C
1 paper
NM_015629.4
p.K76fs
c.226_227fs
1 paper
NM_015629.4
p.K76fs
c.226_227fs
1 paper
NM_015629.4
p.A75delFs
c.225delC
11 papers
NM_015629.4
p.Q74*
c.220C>T
3 papers
NM_015629.4
p.K73*
c.217A>T
1 paper
NM_015629.4
p.Q74_A75insFs
c.221_224dup4
1 paper
NM_015629.4
p.I71_S72insFs
c.211_215dup5
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