Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.A190T

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.A190T
c.568G>A
Surrounding Variants
1 paper
NM_015629.4
p.E189delFs
c.566delA
1 paper
NM_015629.4
p.C191fs
c.571_572fs
1 paper
NM_015629.4
p.E188E
c.564G>A
2 papers
NM_015629.4
p.C191*
c.573C>A
2 papers
NM_015629.4
p.E188*
c.562G>T
1 paper
NM_015629.4
p.D192Y
c.574G>T
1 paper
NM_015629.4
p.R186R
c.558G>A
1 paper
NM_015629.4
p.R186Q
c.557G>A
1 paper
NM_015629.4
p.A194delFs
c.580_581delGC
1 paper
NM_015629.4
p.R186W
c.556C>T
2 papers
NM_015629.4
p.A194insFs
c.581dupC
23 papers
NM_015629.4
p.A194E
c.581C>A
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