Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R42

PPP1R42

8 papers

RefSeq Summary

The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus play...

Pfam Domains

LRR_4aa 72–107UCSCLeucine Rich repeats (2 copies)
LRR_9aa 139–256UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 42

HGNC Previous Symbol

LRRC67

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001364910.1
p.E20*
c.58G>T
1 paper
NM_001364910.1
p.E20K
c.58G>A
1 paper
NM_001364910.1
p.E113Q
c.337G>C
1 paper
NM_001364910.1
p.L121I
c.361C>A
1 paper
NM_001364910.1
p.E132G
c.395A>G
1 paper
NM_001364910.1
p.R139K
c.416G>A
1 paper
NM_001364910.1
p.I158T
c.473T>C
1 paper
NM_001364910.1
p.G203R
c.607G>C
1 paper
NM_001364910.1
p.G203R
c.607G>A
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