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

1–12 of 172 variants

14 papers

NM_012469.4

p.R729W

c.2185C>T

9 papers

NM_012469.4

p.R900H

c.2699G>A

7 papers

NM_012469.4

p.R172W

c.514C>T

4 papers

NM_012469.4

p.N477S

c.1430A>G

3 papers

NM_012469.4

p.G35G

c.105G>A

3 papers

NM_012469.4

p.D184G

c.551A>G

2 papers

NM_012469.4

p.K6insFs

c.16dupA

2 papers

NM_012469.4

p.G22insFs

c.64_65insT

2 papers

NM_012469.4

p.R23W

c.67C>T

2 papers

NM_012469.4

p.T30M

c.89C>T

2 papers

NM_012469.4

p.Q64_A65insT

c.190_194ins3

2 papers

NM_012469.4

p.P181L

c.542C>T