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

Selected Variant

4 papers

NM_006445.4

p.D2332Y

c.6994G>T

Surrounding Variants

3 papers

NM_006445.4

p.D2332fs

c.6994_6995fs

2 papers

NM_006445.4

p.E2331fs

c.6991_6992fs

3 papers

NM_006445.4

p.D2332insFs

c.6994dupG

6 papers

NM_006445.4

p.V2325_D2332del0

c.6974_6994del21

1 paper

NM_006445.4

p.D2332fs

c.6994_6995fs

1 paper

NM_006445.4

p.E2331del1

c.6991_6992delCTC

3 papers

NM_006445.4

p.E2331G

c.6992A>G

5 papers

NM_006445.4

p.E2331delFs

c.6991delC

2 papers

NM_006445.4

p.E2331*

c.6991G>T

1 paper

NM_006445.4

p.E2331K

c.6991G>A

2 papers

NM_006445.4

p.L2333fs

c.6997_6998fs

1 paper

NM_006445.4

p.E2331fs

c.6991_6992fs