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.E56K

c.166G>A

Surrounding Variants

1 paper

NM_002712.3

p.S47S

c.141C>T

1 paper

NM_002712.3

p.V22L

c.64G>C

1 paper

NM_002712.3

p.D19H

c.55G>C

1 paper

NM_002712.3

p.E17A

c.50A>C

1 paper

NM_002712.3

p.L74P

c.221T>C

2 papers

NM_002712.3

p.Y86C

c.257A>G

1 paper

NM_002712.3

p.L103_C104delFs

c.309_310delCT

1 paper

NM_002712.3

p.C104fs

c.310_311fs

1 paper

NM_002712.3

p.E114D

c.342G>C

1 paper

NM_002712.3

p.E114D

c.342G>T

1 paper

NM_002712.3

p.K175_I176delFs

c.523_527del5

1 paper

NM_002712.3

p.E192A

c.575A>C