Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.S311insFs

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.S311insFs
c.931_932ins4
Surrounding Variants
1 paper
NM_015629.4
p.T312I
c.935C>T
1 paper
NM_015629.4
p.T312delFs
c.936delA
1 paper
NM_015629.4
p.E313K
c.937G>A
4 papers
NM_015629.4
p.E313insFs
c.939dupA
1 paper
NM_015629.4
p.F308insFs
c.923_924ins4
1 paper
NM_015629.4
p.G314delFs
c.940delG
5 papers
NM_015629.4
p.G314fs
c.940_941fs
1 paper
NM_015629.4
p.S307fs
c.919_920fs
1 paper
NM_015629.4
p.D306A
c.917A>C
4 papers
NM_015629.4
p.D306N
c.916G>A
2 papers
NM_015629.4
p.V305_D306ins1
c.915_916insTGT
1 paper
NM_015629.4
p.K315_V316Splc
c.945+1G>A
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