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.T1285A

c.3853A>G

Surrounding Variants

1 paper

NM_002864.3

p.L1267P

c.3800T>C

1 paper

NM_002864.3

p.V1262L

c.3784G>T

1 paper

NM_002864.3

p.V1262L

c.3784G>C

1 paper

NM_002864.3

p.S1310S

c.3930A>C

1 paper

NM_002864.3

p.V1319I

c.3955G>A

1 paper

NM_002864.3

p.Q1356Q

c.4068A>G

1 paper

NM_002864.3

p.T1357T

c.4071T>G

1 paper

NM_002864.3

p.H1361Q

c.4083C>G

1 paper

NM_002864.3

p.H1361Q

c.4083C>A

1 paper

NM_002864.3

p.Q1368E

c.4102C>G

1 paper

NM_002864.3

p.K1399fs

c.4195_4196fs

1 paper

NM_002864.3

p.D1233D

c.3699C>T