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.K563K

c.1689G>A

Surrounding Variants

1 paper

NM_002864.3

p.K563_V564Splc

c.1689+6C>T

1 paper

NM_002864.3

p.I556F

c.1666A>T

1 paper

NM_002864.3

p.E555E

c.1665G>A

1 paper

NM_002864.3

p.S551delFs

c.1652_1653delAG

1 paper

NM_002864.3

p.S551fs

c.1651_1652fs

1 paper

NM_002864.3

p.P532insFs

c.1596dupC

1 paper

NM_002864.3

p.V530I

c.1588G>A

1 paper

NM_002864.3

p.A521V

c.1562C>T

1 paper

NM_002864.3

p.G518G

c.1554C>T

1 paper

NM_002864.3

p.P574L

c.1721C>T

1 paper

NM_002864.3

p.S577fs

c.1729_1730fs

1 paper

NM_002864.3

p.S577delFs

c.1731delT