Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R377H

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.R377H
c.1130G>A
Surrounding Variants
1 paper
NM_015629.4
p.R377G
c.1129C>G
1 paper
NM_015629.4
p.R377C
c.1129C>T
2 papers
NM_015629.4
p.R377fs
c.1129_1130fs
1 paper
NM_015629.4
p.R377delFs
c.1129delC
1 paper
NM_015629.4
p.N376_M378delins
c.1126_1133delinsTTCGGAAGCAG
1 paper
NM_015629.4
p.A375P
c.1123G>C
5 papers
NM_015629.4
p.Q374*
c.1120C>T
10 papers
NM_015629.4
p.G381delFs
c.1142delG
5 papers
NM_015629.4
p.G381fs
c.1141_1142fs
1 paper
NM_015629.4
p.G381fs
c.1141_1142fs
1 paper
NM_015629.4
p.E382del1
c.1144_1146delGAG
2 papers
NM_015629.4
p.K373_N376del0
c.1119_1127del9
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