Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Q178R

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.Q178R
c.533A>G
Surrounding Variants
1 paper
NM_015629.4
p.Q177*
c.529C>T
2 papers
NM_015629.4
p.Q177fs
c.529_530fs
1 paper
NM_015629.4
p.S180L
c.539C>T
4 papers
NM_015629.4
p.G176Splc
c.528-1G>A
1 paper
NM_015629.4
p.G176Splc
c.528-1G>T
1 paper
NM_015629.4
p.Q177_E182delFs
c.529_544del16
3 papers
NM_015629.4
p.E181K
c.541G>A
8 papers
NM_015629.4
p.E181*
c.541G>T
2 papers
NM_015629.4
p.L184insFs
c.551_552ins8
2 papers
NM_015629.4
p.E183_A194ins4
c.548_580dup33
2 papers
NM_015629.4
p.E183delFs
c.547delG
2 papers
NM_015629.4
p.E183fs
c.547_548fs
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