Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Y359S

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.Y359S
c.1076A>C
Surrounding Variants
1 paper
NM_015629.4
p.R360delFs
c.1078delC
3 papers
NM_015629.4
p.Y359*
c.1077C>A
2 papers
NM_015629.4
p.Y359*
c.1077C>G
2 papers
NM_015629.4
p.Y359fs
c.1075_1076fs
2 papers
NM_015629.4
p.R358Splc
c.1074-1G>T
3 papers
NM_015629.4
p.R358Splc
c.1074-2A>G
1 paper
NM_015629.4
p.R358Splc
c.1074-2A>T
1 paper
NM_015629.4
p.K361*
c.1081A>T
2 papers
NM_015629.4
p.M362delFs
c.1084delA
1 paper
NM_015629.4
p.M362_I371del10
c.1084_1112del30
1 paper
NM_015629.4
p.K363_E364delFs
c.1088_1091del4
1 paper
NM_015629.4
p.K363fs
c.1087_1088fs
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