Varaico: Literature-Extracted Genetic Variants

CPAMD8

109 papers

RefSeq Summary

This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-assoc...

Pfam Domains

MG2aa 129–221UCSCMG2 domain

MG3aa 223–301UCSCMacroglobulin domain MG3

MG4aa 350–432UCSCMacroglobulin domain MG4

A2M_BRDaa 455–626UCSCAlpha-2-macroglobulin bait region domain

A2Maa 750–841UCSCAlpha-2-macroglobulin family

Methyltransf_FAaa 957–1093UCSCFarnesoic acid 0-methyl transferase

Gene Aliases

HGNC Name

C3 and PZP like alpha-2-macroglobulin domain containing 8

HGNC Alias Symbols

KIAA1283; K-CAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015692.5

p.G854S

c.2560G>A

Surrounding Variants

1 paper

NM_015692.5

p.K845fs

c.2533_2534fs

1 paper

NM_015692.5

p.K845M

c.2534A>T

1 paper

NM_015692.5

p.K845fs

c.2533_2534fs

1 paper

NM_015692.5

p.P844delFs

c.2532delG

1 paper

NM_015692.5

p.V864V

c.2592G>A

2 papers

NM_015692.5

p.Y893*

c.2679C>G

2 papers

NM_015692.5

p.Y893*

c.2679C>A

1 paper

NM_015692.5

p.D922N

c.2764G>A

4 papers

NM_015692.5

p.A784insFs

c.2352dupC

1 paper

NM_015692.5

p.G934delFs

c.2801delC

1 paper

NM_015692.5

p.P936L

c.2807C>T

1 paper

NM_015692.5

p.T940T

c.2820C>T