Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R354*

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
20 papers
NM_015629.4
p.R354*
c.1060C>T
Surrounding Variants
1 paper
NM_015629.4
p.R354G
c.1060C>G
1 paper
NM_015629.4
p.G355G
c.1065C>T
3 papers
NM_015629.4
p.G356S
c.1066G>A
1 paper
NM_015629.4
p.R351delFs
c.1052delG
1 paper
NM_015629.4
p.Q350R
c.1049A>G
3 papers
NM_015629.4
p.Q350*
c.1048C>T
3 papers
NM_015629.4
p.R358Splc
c.1073+1G>A
1 paper
NM_015629.4
p.R358Splc
c.1073+2T>C
1 paper
NM_015629.4
p.D348A
c.1043A>C
5 papers
NM_015629.4
p.R358Splc
c.1073+5G>A
1 paper
NM_015629.4
p.L347V
c.1039C>G
3 papers
NM_015629.4
p.L347delFs
c.1040delT
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