Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.A216P

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
45 papers
NM_015629.4
p.A216P
c.646G>C
Surrounding Variants
1 paper
NM_015629.4
p.A216T
c.646G>A
1 paper
NM_015629.4
p.A216V
c.647C>T
1 paper
NM_015629.4
p.P217A
c.649C>G
1 paper
NM_015629.4
p.F214fs
c.640_641fs
1 paper
NM_015629.4
p.F214delFs
c.641delT
1 paper
NM_015629.4
p.N218K
c.654C>A
1 paper
NM_015629.4
p.N218K
c.654C>G
4 papers
NM_015629.4
p.M212delFs
c.636delG
3 papers
NM_015629.4
p.M212fs
c.634_635fs
1 paper
NM_015629.4
p.M212V
c.634A>G
1 paper
NM_015629.4
p.M212fs
c.634_635fs
1 paper
NM_015629.4
p.S220F
c.659C>T
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