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.*2336R

c.7006T>A

Surrounding Variants

4 papers

NM_006445.4

p.*2336R

c.7006T>C

4 papers

NM_006445.4

p.*2336S

c.7007G>C

3 papers

NM_006445.4

p.*2336W

c.7008A>G

1 paper

NM_006445.4

p.Y2334*

c.7002T>G

1 paper

NM_006445.4

p.Y2334*

c.7002T>A

1 paper

NM_006445.4

p.Y2334C

c.7001A>G

1 paper

NM_006445.4

p.L2333_Y2334delFs

c.6999_7000delAC

1 paper

NM_006445.4

p.L2333_Y2334delFs

c.6997_7000del4

1 paper

NM_006445.4

p.D2332_Y2334Fs

c.6994_7001delinsTTTACTCFs

13 papers

NM_006445.4

p.Y2334N

c.7000T>A

2 papers

NM_006445.4

p.Y2334fs

c.7000_7001fs

1 paper

NM_006445.4

p.L2333delFs

c.6997delG