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.S1404P

c.4210T>C

Surrounding Variants

1 paper

NM_015692.5

p.T1386N

c.4157C>A

2 papers

NM_015692.5

p.S1351L

c.4052C>T

1 paper

NM_015692.5

p.S1349C

c.4045A>T

1 paper

NM_015692.5

p.Q1417_D1418Splc

c.4252-36C>A

1 paper

NM_015692.5

p.S1433Y

c.4298C>A

3 papers

NM_015692.5

p.Y1451H

c.4351T>C

1 paper

NM_015692.5

p.A1468T

c.4402G>A

3 papers

NM_015692.5

p.Q1513fs

c.4537_4538fs

1 paper

NM_015692.5

p.Q1513delFs

c.4537delG

1 paper

NM_015692.5

p.Q1518*

c.4552C>T

1 paper

NM_015692.5

p.P1521L

c.4562C>T

1 paper

NM_015692.5

p.M1524fs

c.4570_4571fs