Varaico: Literature-Extracted Genetic Variants

Gene:MFAP2

MFAP2

22 papers

RefSeq Summary

Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript varia...

Pfam Domains

MAGPaa 1–156UCSCMicrofibril-associated glycoprotein (MAGP)

Gene Aliases

HGNC Name

microfibril associated protein 2

HGNC Alias Symbols

MAGP; MAGP-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
1 paper
NM_002403.4
p.A4V
c.11C>T
1 paper
NM_002403.4
p.A4_Y5insFs
c.12_13insC
1 paper
NM_002403.4
p.Q20L
c.59A>T
1 paper
NM_002403.4
p.Q41*
c.121C>T
1 paper
NM_002403.4
p.Q51R
c.152A>G
1 paper
NM_002403.4
p.E52Splc
c.154+49G>A
1 paper
NM_002403.4
p.E52Splc
c.155-2A>G
1 paper
NM_002403.4
p.R56W
c.166C>T
1 paper
NM_002403.4
p.V74V
c.222C>T
1 paper
NM_002403.4
p.D96Splc
c.286+1G>T
1 paper
NM_002403.4
p.Q101P
c.302A>C
1 paper
NM_002403.4
p.I110K
c.329T>A
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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."