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

2 papers

NM_006445.4

p.Y2326*

c.6978C>G

Surrounding Variants

1 paper

NM_006445.4

p.Y2326insFs

c.6977dupA

2 papers

NM_006445.4

p.Y2326*

c.6978C>A

1 paper

NM_006445.4

p.S2327F

c.6980C>T

1 paper

NM_006445.4

p.S2327insFs

c.6981dupT

3 papers

NM_006445.4

p.A2328V

c.6983C>T

2 papers

NM_006445.4

p.A2328E

c.6983C>A

1 paper

NM_006445.4

p.A2328fs

c.6982_6983fs

1 paper

NM_006445.4

p.A2328A

c.6984G>A

3 papers

NM_006445.4

p.D2329N

c.6985G>A

1 paper

NM_006445.4

p.E2324insFs

c.6970dupG

1 paper

NM_006445.4

p.E2324delFs

c.6970delC

1 paper

NM_006445.4

p.E2324*

c.6970G>T