Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.V92delFs

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.V92delFs
c.274delG
Surrounding Variants
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.Y90C
c.269A>G
1 paper
NM_015629.4
p.R91delFs
c.271delC
1 paper
NM_015629.4
p.I93T
c.278T>C
4 papers
NM_015629.4
p.Y90_R91delFs
c.269_273del5
1 paper
NM_015629.4
p.I93I
c.279C>T
1 paper
NM_015629.4
p.V94_L99delFs
c.281_297del17
1 paper
NM_015629.4
p.V94M
c.280G>A
1 paper
NM_015629.4
p.V94fs
c.280_281fs
1 paper
NM_015629.4
p.E89Q
c.265G>C
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