Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.K120delFs

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.K120delFs
c.359delA
Surrounding Variants
1 paper
NM_015629.4
p.S119*
c.356C>A
3 papers
NM_015629.4
p.K120insFs
c.359dupA
1 paper
NM_015629.4
p.S119*
c.356C>G
11 papers
NM_015629.4
p.S119_K120delFs
c.357_358delAA
1 paper
NM_015629.4
p.K120fs
c.358_359fs
6 papers
NM_015629.4
p.K120fs
c.358_359fs
1 paper
NM_015629.4
p.Y118*
c.354C>A
1 paper
NM_015629.4
p.Y118*
c.354C>G
1 paper
NM_015629.4
p.R121_E124delFs
c.362_371del10
1 paper
NM_015629.4
p.Y118fs
c.352_353fs
1 paper
NM_015629.4
p.R121G
c.361A>G
3 papers
NM_015629.4
p.R121fs
c.361_362fs
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