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.S433delFs

c.1297_1298delAG

Surrounding Variants

1 paper

NM_012469.4

p.V434M

c.1300G>A

1 paper

NM_012469.4

p.E414G

c.1241A>G

1 paper

NM_012469.4

p.E412D

c.1236G>C

1 paper

NM_012469.4

p.E412D

c.1236G>T

1 paper

NM_012469.4

p.A410delFs

c.1229delC

1 paper

NM_012469.4

p.L406F

c.1218G>C

1 paper

NM_012469.4

p.L406F

c.1218G>T

1 paper

NM_012469.4

p.R464*

c.1390C>T

1 paper

NM_012469.4

p.N477D

c.1429A>G

4 papers

NM_012469.4

p.N477S

c.1430A>G

1 paper

NM_012469.4

p.N479insFs

c.1435dupA

1 paper

NM_012469.4

p.I487I

c.1461C>T