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.T109insFs

c.325dupA

Surrounding Variants

1 paper

NM_001166160.2

p.E107fs

c.319_320fs

1 paper

NM_001166160.2

p.T109fs

c.325_326fs

1 paper

NM_001166160.2

p.L116F

c.348G>C

1 paper

NM_001166160.2

p.L116F

c.348G>T

1 paper

NM_001166160.2

p.E117D

c.351G>C

1 paper

NM_001166160.2

p.E117D

c.351G>T

1 paper

NM_001166160.2

p.I124V

c.370A>G

1 paper

NM_001166160.2

p.M130I

c.390G>A

1 paper

NM_001166160.2

p.M130I

c.390G>C

1 paper

NM_001166160.2

p.M130I

c.390G>T

1 paper

NM_001166160.2

p.F139I

c.415T>A

1 paper

NM_001166160.2

p.R143Q

c.428G>A