Varaico: Literature-Extracted Genetic Variants

RP9

73 papers

RefSeq Summary

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splici...

Pfam Domains

RP9_Naa 26–54UCSCRetinitis pigmentosa 9 protein N-terminal domain

RP9_Caa 127–191UCSCRetinitis pigmentosa 9 protein C-terminal domain

Gene Aliases

HGNC Name

RP9 pre-mRNA splicing factor

HGNC Alias Symbol

PAP-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_203288.2

p.D170G

c.509A>G

Surrounding Variants

1 paper

NM_203288.2

p.E171delFs

c.511_512delTC

1 paper

NM_203288.2

p.Q162fs

c.484_485fs

1 paper

NM_203288.2

p.Q162delFs

c.484_485delTG

1 paper

NM_203288.2

p.E183D

c.549G>T

1 paper

NM_203288.2

p.E183D

c.549G>C

2 papers

NM_203288.2

p.R207Q

c.620G>A

5 papers

NM_203288.2

p.K210R

c.629A>G

1 paper

NM_203288.2

p.S220fs

c.658_659fs

4 papers

NM_203288.2

p.*222delFs

c.664delA

1 paper

NM_203288.2

p.*222fs

c.664_665fs

1 paper

NM_203288.2

p.R150*

c.448C>T

2 papers

NM_203288.2

p.R146*

c.436C>T