Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E124_L125delFs

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.E124_L125delFs
c.371_375del5
Surrounding Variants
1 paper
NM_015629.4
p.F122L
c.366C>A
1 paper
NM_015629.4
p.F122L
c.366C>G
1 paper
NM_015629.4
p.E124_A132del0
c.371_394del24
1 paper
NM_015629.4
p.F122C
c.365T>G
1 paper
NM_015629.4
p.E124fs
c.370_371fs
1 paper
NM_015629.4
p.F122L
c.364T>C
1 paper
NM_015629.4
p.R121G
c.361A>G
3 papers
NM_015629.4
p.R121fs
c.361_362fs
4 papers
NM_015629.4
p.L125V
c.373C>G
1 paper
NM_015629.4
p.R121_E124delFs
c.362_371del10
1 paper
NM_015629.4
p.K120fs
c.358_359fs
6 papers
NM_015629.4
p.K120fs
c.358_359fs
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