Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E126*

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.E126*
c.376G>T
Surrounding Variants
4 papers
NM_015629.4
p.L125V
c.373C>G
1 paper
NM_015629.4
p.L128_V129insFs
c.382_385dup4
1 paper
NM_015629.4
p.E124fs
c.370_371fs
1 paper
NM_015629.4
p.L128_N131delFs
c.383_392del10
5 papers
NM_015629.4
p.L128*
c.383T>A
1 paper
NM_015629.4
p.E124_A132del0
c.371_394del24
1 paper
NM_015629.4
p.E124_L125delFs
c.371_375del5
1 paper
NM_015629.4
p.F122L
c.366C>A
1 paper
NM_015629.4
p.F122L
c.366C>G
1 paper
NM_015629.4
p.V129D
c.386T>A
6 papers
NM_015629.4
p.P130delFs
c.390delC
1 paper
NM_015629.4
p.F122C
c.365T>G
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