Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.L197_A199delFs

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.L197_A199delFs
c.591_597del7
Surrounding Variants
6 papers
NM_015629.4
p.L197P
c.590T>C
1 paper
NM_015629.4
p.L197L
c.589C>T
1 paper
NM_015629.4
p.E196fs
c.586_587fs
1 paper
NM_015629.4
p.A199V
c.596C>T
1 paper
NM_015629.4
p.L195P
c.584T>C
1 paper
NM_015629.4
p.E196delFs
c.586delG
1 paper
NM_015629.4
p.A199A
c.597C>A
1 paper
NM_015629.4
p.L195fs
c.583_584fs
23 papers
NM_015629.4
p.A194E
c.581C>A
1 paper
NM_015629.4
p.K201insFs
c.602dupA
2 papers
NM_015629.4
p.A194insFs
c.581dupC
1 paper
NM_015629.4
p.A194delFs
c.580_581delGC
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