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

1–12 of 108 variants

3 papers

NM_001166160.2

p.R24Q

c.71G>A

2 papers

NM_001166160.2

p.T109insFs

c.325dupA

2 papers

NM_001166160.2

p.D368N

c.1102G>A

2 papers

NM_001166160.2

p.D428E

c.1284T>A

2 papers

NM_001166160.2

p.D428E

c.1284T>G

2 papers

NM_001166160.2

p.P895S

c.2683C>T

2 papers

NM_001166160.2

p.R917C

c.2749C>T

1 paper

NM_001166160.2

p.P18_R20delFs

c.54_60del7

1 paper

NM_001166160.2

p.T33I

c.98C>T

1 paper

NM_001166160.2

p.K36E

c.106A>G

1 paper

NM_001166160.2

p.K38T

c.113A>C

1 paper

NM_001166160.2

p.E42V

c.125A>T