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

3 papers

NM_015692.5

p.R341K

c.1022G>A

Surrounding Variants

3 papers

NM_015692.5

p.R341W

c.1021A>T

1 paper

NM_015692.5

p.Q340Q

c.1020G>A

2 papers

NM_015692.5

p.V339M

c.1015G>A

1 paper

NM_015692.5

p.V344M

c.1030G>A

1 paper

NM_015692.5

p.P338fs

c.1012_1013fs

1 paper

NM_015692.5

p.D345N

c.1033G>A

1 paper

NM_015692.5

p.I346M

c.1038C>G

1 paper

NM_015692.5

p.D351D

c.1053C>T

1 paper

NM_015692.5

p.G327W

c.979G>T

1 paper

NM_015692.5

p.L360L

c.1078C>T

1 paper

NM_015692.5

p.A320V

c.959C>T

4 papers

NM_015692.5

p.F312S

c.935T>C