Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.G176Splc

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
19 papers
NM_015629.4
p.G176Splc
c.527+3A>G
Surrounding Variants
3 papers
NM_015629.4
p.G176Splc
c.527+2T>C
3 papers
NM_015629.4
p.G176Splc
c.527+2T>G
5 papers
NM_015629.4
p.G176Splc
c.527+1G>A
12 papers
NM_015629.4
p.G176Splc
c.527+1G>T
1 paper
NM_015629.4
p.Q175R
c.524A>G
2 papers
NM_015629.4
p.Q175_G176insFs
c.525_526insAG
1 paper
NM_015629.4
p.Q175*
c.523C>T
1 paper
NM_015629.4
p.Q175delFs
c.524delA
1 paper
NM_015629.4
p.T174A
c.520A>G
1 paper
NM_015629.4
p.A171V
c.512C>T
1 paper
NM_015629.4
p.T170I
c.509C>T
1 paper
NM_015629.4
p.V169I
c.505G>A
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