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.R203S

c.609G>C

Surrounding Variants

1 paper

NM_002864.3

p.R203S

c.609G>T

1 paper

NM_002864.3

p.T208K

c.623C>A

1 paper

NM_002864.3

p.S210*

c.629C>G

1 paper

NM_002864.3

p.E222K

c.664G>A

1 paper

NM_002864.3

p.S179N

c.536G>A

1 paper

NM_002864.3

p.E167Q

c.499G>C

1 paper

NM_002864.3

p.D242V

c.725A>T

1 paper

NM_002864.3

p.V245L

c.733G>T

1 paper

NM_002864.3

p.V249F

c.745G>T

1 paper

NM_002864.3

p.E252Splc

c.755+15T>G

1 paper

NM_002864.3

p.R157Q

c.470G>A

1 paper

NM_002864.3

p.R155H

c.464G>A