Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Y435*

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
2 papers
NM_015629.4
p.Y435*
c.1305T>A
Surrounding Variants
2 papers
NM_015629.4
p.Y435*
c.1305T>G
1 paper
NM_015629.4
p.G436_G447del12
c.1306_1340del36
2 papers
NM_015629.4
p.G436D
c.1307G>A
1 paper
NM_015629.4
p.V434V
c.1302A>G
1 paper
NM_015629.4
p.V433_G436insFs
c.1299_1306dup8
1 paper
NM_015629.4
p.V433I
c.1297G>A
1 paper
NM_015629.4
p.V433delFs
c.1297_1298delGT
2 papers
NM_015629.4
p.V433_V434del2
c.1297_1301del6
1 paper
NM_015629.4
p.T440insFs
c.1318dupA
1 paper
NM_015629.4
p.T440fs
c.1318_1319fs
3 papers
NM_015629.4
p.Q431*
c.1291C>T
1 paper
NM_015629.4
p.T440T
c.1320C>T
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