Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.K230delFs

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
3 papers
NM_015629.4
p.K230delFs
c.690delG
Surrounding Variants
1 paper
NM_015629.4
p.I231del1
c.691_692delATC
3 papers
NM_015629.4
p.I231fs
c.691_692fs
2 papers
NM_015629.4
p.A228P
c.682G>C
1 paper
NM_015629.4
p.A228S
c.682G>T
1 paper
NM_015629.4
p.G233Splc
c.697+1G>C
1 paper
NM_015629.4
p.A225T
c.673G>A
1 paper
NM_015629.4
p.A225P
c.673G>C
1 paper
NM_015629.4
p.A225delFs
c.674delC
4 papers
NM_015629.4
p.A225fs
c.673_674fs
3 papers
NM_015629.4
p.G224R
c.670G>A
2 papers
NM_015629.4
p.G224R
c.670G>C
3 papers
NM_015629.4
p.A225delFs
c.673delG
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