Varaico: Literature-Extracted Genetic Variants

PRPF8

593 papers

RefSeq Summary

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the cataly...

Pfam Domains

PRO8NTaa 58–209UCSCPRO8NT (NUC069), PrP8 N-terminal domain

PROCNaa 395–801UCSCPROCN (NUC071) domain

RRM_4aa 986–1077UCSCRNA recognition motif of the spliceosomal PrP8

U5_2-snRNA_bdgaa 1236–1372UCSCU5-snRNA binding site 2 of PrP8

U6-snRNA_bdgaa 1442–1600UCSCU6-snRNA interacting domain of PrP8

PRP8_domainIVaa 1760–1989UCSCPRP8 domain IV core

Gene Aliases

HGNC Name

pre-mRNA processing factor 8

HGNC Previous Symbol

RP13

Papers

RefSeq ID

Protein change

DNA change

1–12 of 707 variants

34 papers

NM_006445.4

p.H2309P

c.6926A>C

30 papers

NM_006445.4

p.R2310G

c.6928A>G

26 papers

NM_006445.4

p.D1598N

c.4792G>A

24 papers

NM_006445.4

p.R2310K

c.6929G>A

20 papers

NM_006445.4

p.H2309R

c.6926A>G

17 papers

NM_006445.4

p.D1598Y

c.4792G>T

17 papers

NM_006445.4

p.D1598V

c.4793A>T

16 papers

NM_006445.4

p.M1307I

c.3921G>T

16 papers

NM_006445.4

p.M1307I

c.3921G>C

16 papers

NM_006445.4

p.M1307I

c.3921G>A

15 papers

NM_006445.4

p.C1594W

c.4782T>G

15 papers

NM_006445.4

p.R1935H

c.5804G>A