Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E206*

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
3 papers
NM_015629.4
p.E206*
c.616G>T
Surrounding Variants
6 papers
NM_015629.4
p.Y205*
c.615C>A
6 papers
NM_015629.4
p.Y205*
c.615C>G
1 paper
NM_015629.4
p.E206_E209del0
c.616_627del12
5 papers
NM_015629.4
p.Y205delFs
c.615delC
2 papers
NM_015629.4
p.Y205fs
c.613_614fs
2 papers
NM_015629.4
p.Y205del1
c.613_615delTAC
1 paper
NM_015629.4
p.R203C
c.607C>T
1 paper
NM_015629.4
p.S210delFs
c.629delC
1 paper
NM_015629.4
p.R211delFs
c.633delG
1 paper
NM_015629.4
p.R211fs
c.631_632fs
1 paper
NM_015629.4
p.K201insFs
c.602dupA
8 papers
NM_015629.4
p.R211Q
c.632G>A
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