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.K1636R

c.4907A>G

Surrounding Variants

2 papers

NM_006445.4

p.V1639D

c.4916T>A

1 paper

NM_006445.4

p.K1649Splc

c.4946+2T>C

2 papers

NM_006445.4

p.R1617Q

c.4850G>A

1 paper

NM_006445.4

p.K1611N

c.4833G>T

1 paper

NM_006445.4

p.K1611N

c.4833G>C

1 paper

NM_006445.4

p.D1598E

c.4794C>G

1 paper

NM_006445.4

p.D1598E

c.4794C>A

17 papers

NM_006445.4

p.D1598V

c.4793A>T

1 paper

NM_006445.4

p.D1598G

c.4793A>G

1 paper

NM_006445.4

p.D1598A

c.4793A>C

17 papers

NM_006445.4

p.D1598Y

c.4792G>T

1 paper

NM_006445.4

p.D1598H

c.4792G>C