Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.K257insFs

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
13 papers
NM_015629.4
p.K257insFs
c.769_770insA
Surrounding Variants
2 papers
NM_015629.4
p.K257fs
c.769_770fs
1 paper
NM_015629.4
p.K257*
c.769A>T
1 paper
NM_015629.4
p.Q255Q
c.765G>A
1 paper
NM_015629.4
p.T258Fs
c.772_773delinsCFs
1 paper
NM_015629.4
p.Q255L
c.764A>T
2 papers
NM_015629.4
p.T258Fs
c.772_773delinsCAACATGCAACATCATFs
6 papers
NM_015629.4
p.T258fs
c.772_773fs
4 papers
NM_015629.4
p.Q255*
c.763C>T
1 paper
NM_015629.4
p.Q255del1
c.763_765delCAG
1 paper
NM_015629.4
p.L259_S260delFs
c.777_778delGT
1 paper
NM_015629.4
p.A254S
c.760G>T
4 papers
NM_015629.4
p.G253R
c.757G>A
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