Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.F113S

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.F113S
c.338T>C
Surrounding Variants
1 paper
NM_015629.4
p.F113_I114insFs
c.339_340insG
6 papers
NM_015629.4
p.I114N
c.341T>A
1 paper
NM_015629.4
p.K112fs
c.334_335fs
1 paper
NM_015629.4
p.R115R
c.343C>A
1 paper
NM_015629.4
p.D116delFs
c.346delG
1 paper
NM_015629.4
p.K112delFs
c.335delA
1 paper
NM_015629.4
p.R115Q
c.344G>A
1 paper
NM_015629.4
p.R115P
c.344G>C
1 paper
NM_015629.4
p.H111Y
c.331C>T
5 papers
NM_015629.4
p.H111fs
c.331_332fs
1 paper
NM_015629.4
p.K117insFs
c.351dupG
1 paper
NM_015629.4
p.I109N
c.326T>A
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