Varaico: Literature-Extracted Genetic Variants

Gene:PPP6R1

PPP6R1

51 papers

RefSeq Summary

Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the...

Pfam Domains

SAPSaa 128–519UCSCSIT4 phosphatase-associated protein

Gene Aliases

HGNC Name

protein phosphatase 6 regulatory subunit 1

HGNC Previous Symbols

KIAA1115; SAPS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
1 paper
NM_014931.4
p.E26Q
c.76G>C
1 paper
NM_014931.4
p.E30D
c.90G>T
1 paper
NM_014931.4
p.E30D
c.90G>C
1 paper
NM_014931.4
p.E36E
c.108G>A
1 paper
NM_014931.4
p.D46N
c.136G>A
1 paper
NM_014931.4
p.P66S
c.196C>T
1 paper
NM_014931.4
p.I92F
c.274A>T
1 paper
NM_014931.4
p.S101A
c.301T>G
1 paper
NM_014931.4
p.N104T
c.311A>C
1 paper
NM_014931.4
p.G108A
c.323G>C
1 paper
NM_014931.4
p.Q111H
c.333G>T
1 paper
NM_014931.4
p.Q111H
c.333G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."