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.F799insFs

c.2395_2396ins14

Surrounding Variants

1 paper

NM_002864.3

p.F799fs

c.2395_2396fs

1 paper

NM_002864.3

p.S791P

c.2371T>C

1 paper

NM_002864.3

p.L784_G785insFs

c.2352_2353insC

5 papers

NM_002864.3

p.V813A

c.2438T>C

1 paper

NM_002864.3

p.T815I

c.2444C>T

1 paper

NM_002864.3

p.S779S

c.2337C>T

1 paper

NM_002864.3

p.R829W

c.2485C>T

1 paper

NM_002864.3

p.V750L

c.2248G>T

1 paper

NM_002864.3

p.V750L

c.2248G>C

1 paper

NM_002864.3

p.R738Q

c.2213G>A

1 paper

NM_002864.3

p.R738*

c.2212C>T

2 papers

NM_002864.3

p.T736M

c.2207C>T