Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.A345V

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.A345V
c.1034C>T
Surrounding Variants
1 paper
NM_015629.4
p.A345T
c.1033G>A
3 papers
NM_015629.4
p.A345_P346insFs
c.1035_1036insGC
1 paper
NM_015629.4
p.A345fs
c.1033_1034fs
1 paper
NM_015629.4
p.P346S
c.1036C>T
3 papers
NM_015629.4
p.P346fs
c.1036_1037fs
1 paper
NM_015629.4
p.A345insFs
c.1033dupG
1 paper
NM_015629.4
p.P344S
c.1030C>T
1 paper
NM_015629.4
p.P344delFs
c.1031_1032delCT
1 paper
NM_015629.4
p.P344fs
c.1030_1031fs
1 paper
NM_015629.4
p.L347V
c.1039C>G
3 papers
NM_015629.4
p.L347delFs
c.1040delT
1 paper
NM_015629.4
p.L347fs
c.1039_1040fs
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