Varaico: Literature-Extracted Genetic Variants

PPP1R7

30 papers

RefSeq Summary

This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for ...

Pfam Domains

LRR_4aa 120–162UCSCLeucine Rich repeats (2 copies)

LRR_4aa 164–207UCSCLeucine Rich repeats (2 copies)

LRR_9aa 251–360UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 7

HGNC Alias Symbol

sds22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002712.3

p.W302*

c.905G>A

Surrounding Variants

1 paper

NM_002712.3

p.W302*

c.906G>A

1 paper

NM_002712.3

p.W302fs

c.904_905fs

1 paper

NM_002712.3

p.E300A

c.899A>C

1 paper

NM_002712.3

p.W302_M303Splc

c.906+16G>A

1 paper

NM_002712.3

p.K275N

c.825A>C

1 paper

NM_002712.3

p.K275N

c.825A>T

1 paper

NM_002712.3

p.L270L

c.810G>A

1 paper

NM_002712.3

p.R255L

c.764G>T

1 paper

NM_002712.3

p.R199_A200Splc

c.598-40G>A

1 paper

NM_002712.3

p.E192A

c.575A>C

1 paper

NM_002712.3

p.K175_I176delFs

c.523_527del5