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

1–12 of 188 variants

4 papers

NM_015692.5

p.F312S

c.935T>C

4 papers

NM_015692.5

p.A784insFs

c.2352dupC

3 papers

NM_015692.5

p.R341W

c.1021A>T

3 papers

NM_015692.5

p.R341K

c.1022G>A

3 papers

NM_015692.5

p.Y1451H

c.4351T>C

3 papers

NM_015692.5

p.Q1513fs

c.4537_4538fs

2 papers

NM_015692.5

p.V339M

c.1015G>A

2 papers

NM_015692.5

p.T380M

c.1139C>T

2 papers

NM_015692.5

p.D656N

c.1966G>A

2 papers

NM_015692.5

p.A688D

c.2063C>A

2 papers

NM_015692.5

p.E691fs

c.2071_2072fs

2 papers

NM_015692.5

p.E691G

c.2072A>G