Varaico: Literature-Extracted Genetic Variants

PRPF4

86 papers

RefSeq Summary

The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint pr...

Pfam Domains

PRP4aa 108–136UCSCpre-mRNA processing factor 4 (PRP4) like

WD40aa 221–259UCSCWD domain, G-beta repeat

WD40aa 263–309UCSCWD domain, G-beta repeat

WD40aa 313–351UCSCWD domain, G-beta repeat

WD40aa 355–393UCSCWD domain, G-beta repeat

WD40aa 397–435UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

pre-mRNA splicing tri-snRNP complex factor PRPF4

HGNC Alias Symbols

Prp4p; HPRP4; HPRP4P; PRP4; SNRNP60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001244926.2

p.D17A

c.50A>C

Surrounding Variants

1 paper

NM_001244926.2

p.D17V

c.50A>T

1 paper

NM_001244926.2

p.A15insFs

c.43_44insT

2 papers

NM_001244926.2

p.P22insFs

c.64_65insT

1 paper

NM_001244926.2

p.P22P

c.66G>C

1 paper

NM_001244926.2

p.A10A

c.30A>T

1 paper

NM_001244926.2

p.T11_K12del2

c.31_35del6

2 papers

NM_001244926.2

p.K37K

c.111G>A

1 paper

NM_001244926.2

p.E40G

c.119A>G

1 paper

NM_001244926.2

p.A43_K44insT

c.127_131ins3

1 paper

NM_001244926.2

p.G45insFs

c.134_135ins4

1 paper

NM_001244926.2

p.K56N

c.168A>T

1 paper

NM_004697.5

p.I60insFs

c.180dupC