Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E68delFs

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.E68delFs
c.204delG
Surrounding Variants
1 paper
NM_015629.4
p.I67delFs
c.201delT
1 paper
NM_015629.4
p.I67fs
c.199_200fs
1 paper
NM_015629.4
p.K66fs
c.196_197fs
1 paper
NM_015629.4
p.I71_S72insFs
c.211_215dup5
3 papers
NM_015629.4
p.K66delFs
c.196_197delAA
4 papers
NM_015629.4
p.M65K
c.194T>A
1 paper
NM_015629.4
p.Q74_A75insFs
c.221_224dup4
1 paper
NM_015629.4
p.M65insFs
c.193dupA
2 papers
NM_015629.4
p.M64_M65insT
c.190_194ins3
3 papers
NM_015629.4
p.K73*
c.217A>T
11 papers
NM_015629.4
p.Q74*
c.220C>T
1 paper
NM_015629.4
p.A75delFs
c.225delC
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