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.F2317delFs

c.6950_6951delAA

Surrounding Variants

3 papers

NM_006445.4

p.A2318G

c.6953C>G

1 paper

NM_006445.4

p.F2317I

c.6949T>A

2 papers

NM_006445.4

p.F2317fs

c.6949_6950fs

1 paper

NM_006445.4

p.L2315delFs

c.6945delG

2 papers

NM_006445.4

p.L2315delFs

c.6943delG

5 papers

NM_006445.4

p.Q2321*

c.6961C>T

1 paper

NM_006445.4

p.L2315fs

c.6943_6944fs

13 papers

NM_006445.4

p.F2314L

c.6942C>G

13 papers

NM_006445.4

p.F2314L

c.6942C>A

1 paper

NM_006445.4

p.N2316_Q2321delFs

c.6947_6962del16

13 papers

NM_006445.4

p.F2314L

c.6940T>C

1 paper

NM_006445.4

p.E2322*

c.6964G>T