Varaico: Literature-Extracted Genetic Variants

Gene:CPAMD8
Variant:p.W751delFs

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.W751delFs
c.2253delC
Surrounding Variants
4 papers
NM_015692.5
p.A784insFs
c.2352dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."