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.E1283E

c.3849G>A

Surrounding Variants

2 papers

NM_006445.4

p.E1292K

c.3874G>A

1 paper

NM_006445.4

p.E1292D

c.3876G>T

1 paper

NM_006445.4

p.M1271V

c.3811A>G

1 paper

NM_006445.4

p.T1297K

c.3890C>A

1 paper

NM_006445.4

p.T1297_R1298del2

c.3889_3893del6

1 paper

NM_006445.4

p.L1267F

c.3799C>T

1 paper

NM_006445.4

p.S1305S

c.3915C>T

2 papers

NM_006445.4

p.N1304_S1305delFs

c.3910_3914del5

1 paper

NM_006445.4

p.K1306R

c.3917A>G

1 paper

NM_006445.4

p.M1307V

c.3919A>G

16 papers

NM_006445.4

p.M1307I

c.3921G>T

16 papers

NM_006445.4

p.M1307I

c.3921G>C