Varaico: Literature-Extracted Genetic Variants

PZP

129 papers

RefSeq Summary

The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activ...

Pfam Domains

MG2aa 127–220UCSCMG2 domain

MG3aa 222–309UCSCMacroglobulin domain MG3

MG4aa 346–441UCSCMacroglobulin domain MG4

A2M_BRDaa 455–603UCSCAlpha-2-macroglobulin bait region domain

A2Maa 744–834UCSCAlpha-2-macroglobulin family

TED_complementaa 954–1270UCSCA-macroglobulin TED domain

Gene Aliases

HGNC Name

PZP alpha-2-macroglobulin like

HGNC Alias Symbol

CPAMD6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002864.3

p.S924S

c.2772T>C

Surrounding Variants

1 paper

NM_002864.3

p.M925V

c.2773A>G

1 paper

NM_002864.3

p.S923G

c.2767A>G

1 paper

NM_002864.3

p.E898*

c.2692G>T

1 paper

NM_002864.3

p.S885F

c.2654C>T

1 paper

NM_002864.3

p.E935Q

c.2803G>C

4 papers

NM_002864.3

p.N857S

c.2570A>G

1 paper

NM_002864.3

p.L957V

c.2869C>G

1 paper

NM_002864.3

p.L834L

c.2502G>T

1 paper

NM_002864.3

p.M965I

c.2895G>T

1 paper

NM_002864.3

p.M965I

c.2895G>C

1 paper

NM_002864.3

p.M965I

c.2895G>A

1 paper

NM_002864.3

p.N967N

c.2901T>C