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

Selected Variant

1 paper

NM_006239.3

p.Y33*

c.99C>G

Surrounding Variants

1 paper

NM_006239.3

p.Y33*

c.99C>A

1 paper

NM_006239.3

p.V34M

c.100G>A

1 paper

NM_006239.3

p.R31Q

c.92G>A

1 paper

NM_006239.3

p.R36C

c.106C>T

1 paper

NM_006239.3

p.L25L

c.73C>T

1 paper

NM_006239.3

p.I47N

c.140T>A

1 paper

NM_006239.3

p.A19D

c.56C>A

1 paper

NM_006239.3

p.F48_Q49insFs

c.144_145insG

1 paper

NM_006239.3

p.L69V

c.205C>G

1 paper

NM_006239.3

p.D71Y

c.211G>T

1 paper

NM_006239.3

p.S76fs

c.226_227fs

1 paper

NM_006239.3

p.S76delFs

c.226_227delCT