Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.T369_K373del0

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.T369_K373del0
c.1106_1117del12
Surrounding Variants
1 paper
NM_015629.4
p.E370_I371insFs
c.1110_1111ins8
1 paper
NM_015629.4
p.L368fs
c.1102_1103fs
4 papers
NM_015629.4
p.E370*
c.1108G>T
1 paper
NM_015629.4
p.I371_K373del0
c.1112_1117del6
3 papers
NM_015629.4
p.L366delFs
c.1098delG
2 papers
NM_015629.4
p.L366fs
c.1096_1097fs
1 paper
NM_015629.4
p.I371_A375del5
c.1111_1124del15
1 paper
NM_015629.4
p.I371fs
c.1111_1112fs
1 paper
NM_015629.4
p.I371_A375delFs
c.1112_1124del13
1 paper
NM_015629.4
p.R365Q
c.1094G>A
1 paper
NM_015629.4
p.I371T
c.1112T>C
20 papers
NM_015629.4
p.R372_A375delFs
c.1115_1125del11
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."