Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.S220F

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.S220F
c.659C>T
Surrounding Variants
1 paper
NM_015629.4
p.I221_I222del1
c.663_665delCAT
5 papers
NM_015629.4
p.I222_I223del1
c.666_668delTAT
3 papers
NM_015629.4
p.I222insFs
c.666dupT
1 paper
NM_015629.4
p.N218K
c.654C>A
1 paper
NM_015629.4
p.N218K
c.654C>G
5 papers
NM_015629.4
p.I223del1
c.667_668delATC
1 paper
NM_015629.4
p.I223insFs
c.668dupT
1 paper
NM_015629.4
p.P217A
c.649C>G
3 papers
NM_015629.4
p.A225delFs
c.673delG
3 papers
NM_015629.4
p.G224R
c.670G>A
2 papers
NM_015629.4
p.G224R
c.670G>C
1 paper
NM_015629.4
p.A216V
c.647C>T
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