Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.M250fs

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.M250fs
c.748_749fs
Surrounding Variants
1 paper
NM_015629.4
p.M250insFs
c.749dupT
1 paper
NM_015629.4
p.I249F
c.745A>T
1 paper
NM_015629.4
p.N248fs
c.742_743fs
3 papers
NM_015629.4
p.C247*
c.741C>A
1 paper
NM_015629.4
p.C247_N248insFs
c.741_742insA
4 papers
NM_015629.4
p.G253_R256delFs
c.758_767del10
4 papers
NM_015629.4
p.G253R
c.757G>A
4 papers
NM_015629.4
p.G253R
c.757G>C
4 papers
NM_015629.4
p.G253fs
c.757_758fs
1 paper
NM_015629.4
p.A246V
c.737C>T
5 papers
NM_015629.4
p.A246T
c.736G>A
1 paper
NM_015629.4
p.A246P
c.736G>C
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