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

3 papers

NM_006239.3

p.T168I

c.503C>T

Surrounding Variants

1 paper

NM_006239.3

p.Y170F

c.509A>T

1 paper

NM_006239.3

p.S171S

c.513T>C

1 paper

NM_006239.3

p.R165R

c.493C>A

1 paper

NM_006239.3

p.V146I

c.436G>A

1 paper

NM_006239.3

p.D179A

c.536A>C

2 papers

NM_006239.3

p.R118H

c.353G>A

1 paper

NM_006239.3

p.D112N

c.334G>A

2 papers

NM_006239.3

p.R86H

c.257G>A

1 paper

NM_006239.3

p.S76fs

c.226_227fs

1 paper

NM_006239.3

p.S76delFs

c.226_227delCT

1 paper

NM_006239.3

p.D71Y

c.211G>T

1 paper

NM_006239.3

p.L69V

c.205C>G