Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3C
Variant:p.W246R

PPP1R3C

58 papers

RefSeq Summary

This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of c...

Pfam Domains

CBM_21aa 151–257UCSCCarbohydrate/starch-binding module (family 21)

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 3C

HGNC Previous Symbol

PPP1R5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005398.7
p.W246R
c.736T>A
Surrounding Variants
1 paper
NM_005398.7
p.W246R
c.736T>C
1 paper
NM_005398.7
p.N249I
c.746A>T
2 papers
NM_005398.7
p.N249S
c.746A>G
1 paper
NM_005398.7
p.A240T
c.718G>A
1 paper
NM_005398.7
p.Y254H
c.760T>C
1 paper
NM_005398.7
p.I232fs
c.694_695fs
1 paper
NM_005398.7
p.A271V
c.812C>T
1 paper
NM_005398.7
p.S217*
c.650C>G
1 paper
NM_005398.7
p.S217*
c.650C>A
1 paper
NM_005398.7
p.L296Q
c.887T>A
1 paper
NM_005398.7
p.S298fs
c.892_893fs
1 paper
NM_005398.7
p.F190S
c.569T>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."