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.D184G

c.551A>G

Surrounding Variants

2 papers

NM_012469.4

p.D184N

c.550G>A

1 paper

NM_012469.4

p.D184H

c.550G>C

1 paper

NM_012469.4

p.P183L

c.548C>T

2 papers

NM_012469.4

p.P181L

c.542C>T

1 paper

NM_012469.4

p.H190Q

c.570T>A

1 paper

NM_012469.4

p.Q192Q

c.576G>A

1 paper

NM_012469.4

p.R175H

c.524G>A

1 paper

NM_012469.4

p.R172Q

c.515G>A

1 paper

NM_012469.4

p.R172G

c.514C>G

7 papers

NM_012469.4

p.R172W

c.514C>T

1 paper

NM_012469.4

p.H197P

c.590A>C

1 paper

NM_012469.4

p.D201insFs

c.602dupA