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.Q1444H

c.4332G>C

Surrounding Variants

1 paper

NM_006445.4

p.Q1444H

c.4332G>T

1 paper

NM_006445.4

p.F1442S

c.4325T>C

1 paper

NM_006445.4

p.Q1446_V1447Splc

c.4338+2T>C

1 paper

NM_006445.4

p.T1440_D1441del2

c.4318_4322del6

1 paper

NM_006445.4

p.R1427Q

c.4280G>A

3 papers

NM_006445.4

p.R1414H

c.4241G>A

1 paper

NM_006445.4

p.T1404A

c.4210A>G

1 paper

NM_006445.4

p.Q1450*

c.4348C>T

2 papers

NM_006445.4

p.R1402C

c.4204C>T

2 papers

NM_006445.4

p.D1461Y

c.4381G>T

1 paper

NM_006445.4

p.G1479S

c.4435G>A

1 paper

NM_006445.4

p.V1385F

c.4153G>T