Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.C299R

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
13 papers
NM_015629.4
p.C299R
c.895T>C
Surrounding Variants
6 papers
NM_015629.4
p.C299Y
c.896G>A
1 paper
NM_015629.4
p.C299insFs
c.897dupC
1 paper
NM_015629.4
p.T300delFs
c.898delA
1 paper
NM_015629.4
p.L301_S307delFs
c.901_919del19
1 paper
NM_015629.4
p.T300fs
c.898_899fs
2 papers
NM_015629.4
p.T300delFs
c.900delA
1 paper
NM_015629.4
p.L301L
c.901C>T
3 papers
NM_015629.4
p.L301fs
c.901_902fs
1 paper
NM_015629.4
p.A297T
c.889G>A
1 paper
NM_015629.4
p.A302_A303ins6
c.906_907ins18
1 paper
NM_015629.4
p.L301P
c.902T>C
1 paper
NM_015629.4
p.A302fs
c.904_905fs
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