Varaico: Literature-Extracted Genetic Variants

PPP1R9A

93 papers

RefSeq Summary

This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly ...

Pfam Domains

PDZ_5aa 434–497UCSCPDZ domain

PDZaa 505–589UCSCPDZ domain

SAM_2aa 985–1049UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 9A

HGNC Alias Symbols

Neurabin-I; KIAA1222; FLJ20068

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001166160.2

p.R917C

c.2749C>T

Surrounding Variants

1 paper

NM_001166160.2

p.A904P

c.2710G>C

1 paper

NM_001166160.2

p.S902*

c.2705C>A

2 papers

NM_001166160.2

p.P895S

c.2683C>T

1 paper

NM_001166160.2

p.E939K

c.2815G>A

1 paper

NM_001166160.2

p.V894V

c.2682C>G

1 paper

NM_001166160.2

p.T953A

c.2857A>G

1 paper

NM_001166160.2

p.D1022delFs

c.3064delG