Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R9B
Variant:p.E378_V379del1

PPP1R9B

67 papers

RefSeq Summary

This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded pro...

Pfam Domains

PDZ_5aa 426–489UCSCPDZ domain
PDZaa 496–581UCSCPDZ domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 9B

HGNC Previous Symbols

PPP1R6; PPP1R9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032595.5
p.E378_V379del1
c.1133_1135delCCT
Surrounding Variants
1 paper
NM_032595.5
p.E378K
c.1132G>A
1 paper
NM_032595.5
p.V335L
c.1003G>T
1 paper
NM_032595.5
p.V335L
c.1003G>C
1 paper
NM_032595.5
p.P424L
c.1271C>T
1 paper
NM_032595.5
p.E305D
c.915G>T
1 paper
NM_032595.5
p.E305D
c.915G>C
1 paper
NM_032595.5
p.R287R
c.861G>A
1 paper
NM_032595.5
p.Q277_P279del3
c.829_836del9
2 papers
NM_032595.5
p.P257del1
c.769_770delCGG
1 paper
NM_032595.5
p.P253_P256del0
c.759_767del9
1 paper
NM_032595.5
p.G235E
c.704G>A
1 paper
NM_032595.5
p.E216K
c.646G>A
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