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.R273H

c.818G>A

Surrounding Variants

1 paper

NM_002864.3

p.V274A

c.821T>C

1 paper

NM_002864.3

p.V274D

c.821T>A

1 paper

NM_002864.3

p.Y255C

c.764A>G

1 paper

NM_002864.3

p.T254I

c.761C>T

1 paper

NM_002864.3

p.S292N

c.875G>A

1 paper

NM_002864.3

p.K315E

c.943A>G

6 papers

NM_002864.3

p.L379V

c.1135C>G

1 paper

NM_002864.3

p.F380I

c.1138T>A

1 paper

NM_002864.3

p.L400V

c.1198C>G

1 paper

NM_002864.3

p.E252Splc

c.755+15T>G

1 paper

NM_002864.3

p.V249F

c.745G>T

1 paper

NM_002864.3

p.V245L

c.733G>T