Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Y90_R91delFs

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
4 papers
NM_015629.4
p.Y90_R91delFs
c.269_273del5
Surrounding Variants
1 paper
NM_015629.4
p.Y90C
c.269A>G
1 paper
NM_015629.4
p.R91delFs
c.271delC
1 paper
NM_015629.4
p.E89Q
c.265G>C
1 paper
NM_015629.4
p.E89*
c.265G>T
4 papers
NM_015629.4
p.E89delFs
c.267delA
3 papers
NM_015629.4
p.E89fs
c.265_266fs
1 paper
NM_015629.4
p.P88L
c.263C>T
1 paper
NM_015629.4
p.V92delFs
c.274delG
2 papers
NM_015629.4
p.V92I
c.274G>A
1 paper
NM_015629.4
p.V92F
c.274G>T
1 paper
NM_015629.4
p.I93L
c.277A>C
1 paper
NM_015629.4
p.A87T
c.259G>A
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