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.H587delFs

c.1759_1760delCA

Surrounding Variants

1 paper

NM_012469.4

p.A561T

c.1681G>A

1 paper

NM_012469.4

p.R560L

c.1679G>T

1 paper

NM_012469.4

p.R560*

c.1678C>T

1 paper

NM_012469.4

p.A559V

c.1676C>T

1 paper

NM_012469.4

p.A552P

c.1654G>C

1 paper

NM_012469.4

p.K606R

c.1817A>G

1 paper

NM_012469.4

p.W611C

c.1833G>C

1 paper

NM_012469.4

p.W611C

c.1833G>T

1 paper

NM_012469.4

p.L620L

c.1860G>C

1 paper

NM_012469.4

p.A632A

c.1896C>T

1 paper

NM_012469.4

p.Q636_A637Splc

c.1908+2T>C

1 paper

NM_012469.4

p.I644N

c.1931T>A