Varaico: Literature-Extracted Genetic Variants

PPEF1

57 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

IQaa 17–37UCSCIQ calmodulin-binding motif

PPP5aa 80–158UCSCPPP5 TPR repeat region

Metallophosaa 165–407UCSCCalcineurin-like phosphoesterase

EF-hand_7aa 478–546UCSCEF-hand domain pair

EF-hand_1aa 570–598UCSCEF hand domain

Gene Aliases

HGNC Name

protein phosphatase with EF-hand domain 1

HGNC Alias Symbol

PPP7CA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001377996.1

p.K254N

c.762G>T

Surrounding Variants

2 papers

NM_001377996.1

p.K254N

c.762G>C

1 paper

NM_001377996.1

p.Y243*

c.729T>A

1 paper

NM_001377996.1

p.Y243*

c.729T>G

1 paper

NM_001377996.1

p.I273V

c.817A>G

1 paper

NM_001377996.1

p.E280_V283delFs

c.838_847del10

1 paper

NM_001377996.1

p.S289insFs

c.865_866insA

1 paper

NM_001377996.1

p.L294F

c.882G>C

1 paper

NM_001377996.1

p.L294F

c.882G>T

1 paper

NM_001377996.1

p.S219N

c.656G>A

1 paper

NM_001377996.1

p.R205L

c.614G>T

1 paper

NM_001377996.1

p.Y196F

c.587A>T

1 paper

NM_001377996.1

p.H347Y

c.1039C>T