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

1 paper

NM_203288.2

p.W106G

c.316T>G

Surrounding Variants

1 paper

NM_203288.2

p.R107G

c.319C>G

1 paper

NM_203288.2

p.R107H

c.320G>A

1 paper

NM_203288.2

p.C105Splc

c.314-9C>T

1 paper

NM_203288.2

p.G112fs

c.334_335fs

1 paper

NM_203288.2

p.G112S

c.334G>A

1 paper

NM_203288.2

p.W106_Y111del6

c.316_332del18

1 paper

NM_203288.2

p.N127S

c.380A>G

1 paper

NM_203288.2

p.K129M

c.386A>T

1 paper

NM_203288.2

p.Q128_E131delFs

c.383_392del10

1 paper

NM_203288.2

p.V135_A136Splc

c.406-2A>G

16 papers

NM_203288.2

p.H137L

c.410A>T

2 papers

NM_203288.2

p.R146*

c.436C>T