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

11 papers

NM_006445.4

p.P2301T

c.6901C>A

Surrounding Variants

10 papers

NM_006445.4

p.P2301S

c.6901C>T

1 paper

NM_006445.4

p.P2301L

c.6902C>T

1 paper

NM_006445.4

p.K2302T

c.6905A>C

1 paper

NM_006445.4

p.L2298_A2299delins

c.6893_6896delinsCCATAGA

1 paper

NM_006445.4

p.F2304V

c.6910T>G

12 papers

NM_006445.4

p.F2304L

c.6910T>C

1 paper

NM_006445.4

p.L2298fs

c.6892_6893fs

12 papers

NM_006445.4

p.F2304L

c.6912C>G

12 papers

NM_006445.4

p.F2304L

c.6912C>A

1 paper

NM_006445.4

p.E2307K

c.6919G>A

1 paper

NM_006445.4

p.Y2294*

c.6882T>G

1 paper

NM_006445.4

p.Y2294*

c.6882T>A