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

3 papers

NM_012469.4

p.G35G

c.105G>A

Surrounding Variants

1 paper

NM_012469.4

p.I34V

c.100A>G

1 paper

NM_012469.4

p.D39A

c.116A>C

2 papers

NM_012469.4

p.T30M

c.89C>T

1 paper

NM_012469.4

p.T29I

c.86C>T

1 paper

NM_012469.4

p.D42N

c.124G>A

1 paper

NM_012469.4

p.P43_V44insT

c.127_131ins3

1 paper

NM_012469.4

p.A25G

c.74C>G

1 paper

NM_012469.4

p.A25T

c.73G>A

1 paper

NM_012469.4

p.V56I

c.166G>A

1 paper

NM_012469.4

p.V56L

c.166G>C

1 paper

NM_012469.4

p.V56F

c.166G>T

2 papers

NM_012469.4

p.Q64_A65insT

c.190_194ins3