Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.L155R

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.L155R
c.464T>G
Surrounding Variants
1 paper
NM_015629.4
p.L155_Q156insFs
c.465_468dup4
2 papers
NM_015629.4
p.Q156*
c.466C>T
1 paper
NM_015629.4
p.Q157*
c.469C>T
1 paper
NM_015629.4
p.N152K
c.456T>A
1 paper
NM_015629.4
p.E153_N154delFs
c.459_460delGA
1 paper
NM_015629.4
p.N152fs
c.454_455fs
1 paper
NM_015629.4
p.L159_T160insTAA
c.475_479ins9
1 paper
NM_015629.4
p.N152delFs
c.455delA
1 paper
NM_015629.4
p.K150N
c.450G>C
1 paper
NM_015629.4
p.K150N
c.450G>T
1 paper
NM_015629.4
p.K150_N151insC
c.448_452ins3
1 paper
NM_015629.4
p.T160_N161insFs
c.480_481insT
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