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

1–12 of 35 variants

16 papers

NM_203288.2

p.H137L

c.410A>T

10 papers

NM_203288.2

p.D170G

c.509A>G

5 papers

NM_203288.2

p.K210R

c.629A>G

4 papers

NM_203288.2

p.*222delFs

c.664delA

2 papers

NM_203288.2

p.R146*

c.436C>T

2 papers

NM_203288.2

p.R207Q

c.620G>A

1 paper

NM_203288.2

p.M1T

c.2T>C

1 paper

NM_203288.2

p.M1_S2insFs

c.3_4insT

1 paper

NM_203288.2

p.S2*

c.5C>A

1 paper

NM_203288.2

p.G6E

c.17G>A

1 paper

NM_203288.2

p.Q40*

c.118C>T

1 paper

NM_203288.2

p.S50P

c.148T>C