Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Q374*

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
5 papers
NM_015629.4
p.Q374*
c.1120C>T
Surrounding Variants
1 paper
NM_015629.4
p.A375P
c.1123G>C
2 papers
NM_015629.4
p.K373_N376del0
c.1119_1127del9
1 paper
NM_015629.4
p.N376_M378delins
c.1126_1133delinsTTCGGAAGCAG
5 papers
NM_015629.4
p.R372fs
c.1114_1115fs
1 paper
NM_015629.4
p.R377delFs
c.1129delC
1 paper
NM_015629.4
p.I371_R372insFs
c.1113_1114ins14
1 paper
NM_015629.4
p.I371T
c.1112T>C
20 papers
NM_015629.4
p.R372_A375delFs
c.1115_1125del11
1 paper
NM_015629.4
p.I371fs
c.1111_1112fs
1 paper
NM_015629.4
p.I371_A375delFs
c.1112_1124del13
1 paper
NM_015629.4
p.R377G
c.1129C>G
1 paper
NM_015629.4
p.R377C
c.1129C>T
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