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

1 paper

NM_001377996.1

p.Q89P

c.266A>C

Surrounding Variants

1 paper

NM_001377996.1

p.D93H

c.277G>C

1 paper

NM_001377996.1

p.G109C

c.325G>T

1 paper

NM_001377996.1

p.D122A

c.365A>C

1 paper

NM_001377996.1

p.A127T

c.379G>A

1 paper

NM_001377996.1

p.F128L

c.382T>C

1 paper

NM_001377996.1

p.F128L

c.384C>A

1 paper

NM_001377996.1

p.F128L

c.384C>G

1 paper

NM_001377996.1

p.E130K

c.388G>A

1 paper

NM_001377996.1

p.H158L

c.473A>T