Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.P245_N248del0

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.P245_N248del0
c.735_743del9
Surrounding Variants
3 papers
NM_015629.4
p.P245P
c.735C>T
5 papers
NM_015629.4
p.A246T
c.736G>A
1 paper
NM_015629.4
p.A246P
c.736G>C
5 papers
NM_015629.4
p.P245insFs
c.734dupC
1 paper
NM_015629.4
p.A246S
c.736G>T
1 paper
NM_015629.4
p.M244_A246Fs
c.732_737delinsTGCAGAGGCCTGACCAACCTFs
1 paper
NM_015629.4
p.P245_A246del2
c.733_737del6
1 paper
NM_015629.4
p.A246V
c.737C>T
3 papers
NM_015629.4
p.C247*
c.741C>A
1 paper
NM_015629.4
p.C247_N248insFs
c.741_742insA
1 paper
NM_015629.4
p.N248fs
c.742_743fs
1 paper
NM_015629.4
p.S242F
c.725C>T
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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."