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

2 papers

NM_015692.5

p.E691G

c.2072A>G

Surrounding Variants

2 papers

NM_015692.5

p.E691fs

c.2071_2072fs

1 paper

NM_015692.5

p.D699N

c.2095G>A

1 paper

NM_015692.5

p.R706Q

c.2117G>A

1 paper

NM_015692.5

p.P718S

c.2152C>T

1 paper

NM_015692.5

p.T690_E691Splc

c.2070+4A>C

2 papers

NM_015692.5

p.A688D

c.2063C>A

1 paper

NM_015692.5

p.R670Q

c.2009G>A

1 paper

NM_015692.5

p.R668*

c.2002C>T

2 papers

NM_015692.5

p.D656N

c.1966G>A

1 paper

NM_015692.5

p.Y644C

c.1931A>G

1 paper

NM_015692.5

p.F630C

c.1889T>G

1 paper

NM_015692.5

p.A617V

c.1850C>T