Varaico: Literature-Extracted Genetic Variants

PPEF2

68 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding ...

Pfam Domains

PPP5aa 76–164UCSCPPP5 TPR repeat region

Metallophosaa 173–360UCSCCalcineurin-like phosphoesterase

EF-hand_1aa 656–684UCSCEF hand domain

Gene Aliases

HGNC Name

protein phosphatase with EF-hand domain 2

HGNC Alias Symbol

PPP7CB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

5 papers

NM_006239.3

p.R654*

c.1960C>T

3 papers

NM_006239.3

p.T168I

c.503C>T

2 papers

NM_006239.3

p.R86H

c.257G>A

2 papers

NM_006239.3

p.R118H

c.353G>A

2 papers

NM_006239.3

p.M481L

c.1441A>T

2 papers

NM_006239.3

p.M481L

c.1441A>C

1 paper

NM_006239.3

p.A19D

c.56C>A

1 paper

NM_006239.3

p.L25L

c.73C>T

1 paper

NM_006239.3

p.R31Q

c.92G>A

1 paper

NM_006239.3

p.Y33*

c.99C>G

1 paper

NM_006239.3

p.Y33*

c.99C>A

1 paper

NM_006239.3

p.V34M

c.100G>A