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.D368N

c.1102G>A

Surrounding Variants

1 paper

NM_001166160.2

p.N350D

c.1048A>G

1 paper

NM_001166160.2

p.S387T

c.1159T>A

1 paper

NM_001166160.2

p.N388D

c.1162A>G

1 paper

NM_001166160.2

p.N389T

c.1166A>C

1 paper

NM_001166160.2

p.L343R

c.1028T>G

1 paper

NM_001166160.2

p.S393S

c.1179C>A

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

1 paper

NM_001166160.2

p.Y404F

c.1211A>T

1 paper

NM_001166160.2

p.M331V

c.991A>G

1 paper

NM_001166160.2

p.R405G

c.1213A>G