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.D428E

c.1284T>G

Surrounding Variants

2 papers

NM_001166160.2

p.D428E

c.1284T>A

1 paper

NM_001166160.2

p.E429G

c.1286A>G

1 paper

NM_001166160.2

p.T417R

c.1250C>G

1 paper

NM_001166160.2

p.W414*

c.1242G>A

1 paper

NM_001166160.2

p.W414*

c.1241G>A

1 paper

NM_001166160.2

p.P446L

c.1337C>T

1 paper

NM_001166160.2

p.Y410N

c.1228T>A

1 paper

NM_001166160.2

p.R405G

c.1213A>G

1 paper

NM_001166160.2

p.Y404F

c.1211A>T

1 paper

NM_001166160.2

p.M397I

c.1191G>A

1 paper

NM_001166160.2

p.M397I

c.1191G>C

1 paper

NM_001166160.2

p.M397I

c.1191G>T