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.R1370C

c.4108C>T

Surrounding Variants

1 paper

NM_006445.4

p.Y1369Y

c.4107C>T

1 paper

NM_006445.4

p.L1368S

c.4103T>C

1 paper

NM_006445.4

p.S1377S

c.4131C>T

2 papers

NM_006445.4

p.R1384W

c.4150C>T

1 paper

NM_006445.4

p.V1385F

c.4153G>T

1 paper

NM_006445.4

p.R1354fs

c.4060_4061fs

1 paper

NM_006445.4

p.K1344T

c.4031A>C

1 paper

NM_006445.4

p.R1341Splc

c.4022+15A>G

1 paper

NM_006445.4

p.G1331G

c.3993C>A

1 paper

NM_006445.4

p.M1330V

c.3988A>G

1 paper

NM_006445.4

p.G1326R

c.3976G>C

1 paper

NM_006445.4

p.G1323D

c.3968G>A