Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R21
Variant:p.Q249_L250Splc

PPP1R21

69 papers

Pfam Domains

KLRAQaa 11–111UCSCPredicted coiled-coil domain-containing protein
PPP1R21_helicalaa 255–506UCSCProtein phosphatase 1 regulatory subunit 21, six-helix bundle
PPP1R21_Caa 614–771UCSCProtein phosphatase 1 regulatory subunit 21, C-terminal

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 21

HGNC Previous Symbols

CCDC128; KLRAQ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135629.3
p.Q249_L250Splc
c.748-3A>G
Surrounding Variants
1 paper
NM_001135629.3
p.L250fs
c.748_749fs
1 paper
NM_001135629.3
p.I255delFs
c.763delA
1 paper
NM_001135629.3
p.I255fs
c.763_764fs
1 paper
NM_001135629.3
p.A256A
c.768T>A
1 paper
NM_001135629.3
p.A259S
c.775G>T
1 paper
NM_001135629.3
p.T292_S294del3
c.874_881del9
1 paper
NM_001135629.3
p.Q249_L250insFs
c.747_748insAG
1 paper
NM_001135629.3
p.K232Splc
c.695-1G>T
1 paper
NM_001135629.3
p.H208R
c.623A>G
1 paper
NM_001135629.3
p.Q203K
c.607C>A
1 paper
NM_001135629.3
p.C200Splc
c.599+44C>T
1 paper
NM_001135629.3
p.E180_V181Splc
c.541-29T>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."