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.R157Q

c.470G>A

Surrounding Variants

1 paper

NM_002864.3

p.R155H

c.464G>A

1 paper

NM_002864.3

p.R155C

c.463C>T

1 paper

NM_002864.3

p.E152K

c.454G>A

2 papers

NM_002864.3

p.V147I

c.439G>A

1 paper

NM_002864.3

p.R146H

c.437G>A

1 paper

NM_002864.3

p.T142P

c.424A>C

1 paper

NM_002864.3

p.V130G

c.389T>G

1 paper

NM_002864.3

p.V128D

c.383T>A

1 paper

NM_002864.3

p.T118K

c.353C>A

1 paper

NM_002864.3

p.T110R

c.329C>G

1 paper

NM_002864.3

p.G108fs

c.322_323fs

1 paper

NM_002864.3

p.G108G

c.324G>A