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.K667_G668Splc

c.2002-1G>T

Surrounding Variants

8 papers

NM_002864.3

p.R680*

c.2038C>T

4 papers

NM_002864.3

p.V691M

c.2071G>A

1 paper

NM_002864.3

p.G699G

c.2097A>G

1 paper

NM_002864.3

p.G649E

c.1946G>A

1 paper

NM_002864.3

p.R642H

c.1925G>A

1 paper

NM_002864.3

p.Y615*

c.1845T>G

1 paper

NM_002864.3

p.Y615*

c.1845T>A

1 paper

NM_002864.3

p.S613_V614Splc

c.1840-13C>G

2 papers

NM_002864.3

p.T736M

c.2207C>T

1 paper

NM_002864.3

p.R738*

c.2212C>T

1 paper

NM_002864.3

p.R738Q

c.2213G>A

1 paper

NM_002864.3

p.V750L

c.2248G>T