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

10 papers

NM_006445.4

p.T1931M

c.5792C>T

Surrounding Variants

1 paper

NM_006445.4

p.T1931T

c.5793G>A

1 paper

NM_006445.4

p.T1931A

c.5791A>G

1 paper

NM_006445.4

p.T1926I

c.5777C>T

1 paper

NM_006445.4

p.W1923*

c.5769G>A

1 paper

NM_006445.4

p.W1923*

c.5768G>A

1 paper

NM_006445.4

p.F1902F

c.5706C>T

1 paper

NM_006445.4

p.L1891P

c.5672T>C

1 paper

NM_006445.4

p.G1886R

c.5656G>A

3 papers

NM_006445.4

p.H1875R

c.5624A>G

1 paper

NM_006445.4

p.L1872R

c.5615T>G

3 papers

NM_006445.4

p.P1871L

c.5612C>T

1 paper

NM_006445.4

p.G1867G

c.5601C>T