Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.L283L

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
4 papers
NM_015629.4
p.L283L
c.847C>T
Surrounding Variants
3 papers
NM_015629.4
p.L283_P285delFs
c.849_855del7
3 papers
NM_015629.4
p.P284fs
c.850_851fs
1 paper
NM_015629.4
p.P284L
c.851C>T
2 papers
NM_015629.4
p.Q281*
c.841C>T
1 paper
NM_015629.4
p.Q281fs
c.841_842fs
3 papers
NM_015629.4
p.V280G
c.839T>G
1 paper
NM_015629.4
p.P285_D286Splc
c.855+1G>A
4 papers
NM_015629.4
p.P285_D286Splc
c.855+1G>C
5 papers
NM_015629.4
p.P285_D286Splc
c.855+1G>T
2 papers
NM_015629.4
p.P285_D286Splc
c.855+3G>C
1 paper
NM_015629.4
p.V280_Q281insFs
c.838_841dup4
1 paper
NM_015629.4
p.I279Fs
c.835_836delinsCFs
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