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

1 paper

NM_006445.4

p.S1588_V1590del3

c.4762_4769del9

Surrounding Variants

3 papers

NM_006445.4

p.C1594R

c.4780T>C

1 paper

NM_006445.4

p.S1588R

c.4764C>G

1 paper

NM_006445.4

p.S1588R

c.4764C>A

3 papers

NM_006445.4

p.C1594Y

c.4781G>A

15 papers

NM_006445.4

p.C1594W

c.4782T>G

1 paper

NM_006445.4

p.S1588R

c.4762A>C

1 paper

NM_006445.4

p.F1577_E1587del11

c.4729_4760del33

1 paper

NM_006445.4

p.E1587Q

c.4759G>C

1 paper

NM_006445.4

p.Q1583R

c.4748A>G

2 papers

NM_006445.4

p.R1578Q

c.4733G>A

1 paper

NM_006445.4

p.I1571M

c.4713C>G

1 paper

NM_006445.4

p.I1571S

c.4712T>G