Varaico: Literature-Extracted Genetic Variants

PRPF6

159 papers

RefSeq Summary

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also...

Pfam Domains

PRP1_Naa 13–169UCSCPRP1 splicing factor, N-terminal

TPR_19aa 618–681UCSCTetratricopeptide repeat

TPR_16aa 680–743UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

pre-mRNA processing factor 6

HGNC Alias Symbols

bB152O15.1; ANT-1; U5-102K; Prp6; hPrp6; SNRNP102; RP60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012469.4

p.Y17S

c.50A>C

Surrounding Variants

1 paper

NM_012469.4

p.L15insFs

c.43_44insT

2 papers

NM_012469.4

p.G22insFs

c.64_65insT

2 papers

NM_012469.4

p.R23W

c.67C>T

1 paper

NM_012469.4

p.P12insFs

c.36dupC

1 paper

NM_012469.4

p.L9L

c.25C>T

1 paper

NM_012469.4

p.G24Splc

c.71+6G>A

1 paper

NM_012469.4

p.F8insFs

c.22dupT

1 paper

NM_012469.4

p.P7S

c.19C>T

2 papers

NM_012469.4

p.K6insFs

c.16dupA

1 paper

NM_012469.4

p.K3N

c.9G>C

1 paper

NM_012469.4

p.K3N

c.9G>T

1 paper

NM_012469.4

p.K3delFs

c.9delG