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.P606S

c.1816C>T

Surrounding Variants

1 paper

NM_006239.3

p.L603P

c.1808T>C

1 paper

NM_006239.3

p.S557L

c.1670C>T

1 paper

NM_006239.3

p.S644*

c.1931C>G

1 paper

NM_006239.3

p.S644*

c.1931C>A

1 paper

NM_006239.3

p.N653K

c.1959C>G

1 paper

NM_006239.3

p.N653K

c.1959C>A

5 papers

NM_006239.3

p.R654*

c.1960C>T

1 paper

NM_006239.3

p.D667E

c.2001T>A

1 paper

NM_006239.3

p.G670Splc

c.2008+287C>A

1 paper

NM_006239.3

p.E676K

c.2026G>A

1 paper

NM_006239.3

p.Q679P

c.2036A>C

1 paper

NM_006239.3

p.K682M

c.2045A>T