Varaico: Literature-Extracted Genetic Variants

Gene:MFAP2
Variant:p.A173A

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
Selected Variant
1 paper
NM_002403.4
p.A173A
c.519G>A
Surrounding Variants
1 paper
NM_002403.4
p.A173G
c.518C>G
1 paper
NM_002403.4
p.V172V
c.516G>A
1 paper
NM_002403.4
p.R154G
c.460C>G
1 paper
NM_002403.4
p.H144fs
c.430_431fs
1 paper
NM_002403.4
p.H144delFs
c.430delG
1 paper
NM_002403.4
p.V131I
c.391G>A
1 paper
NM_002403.4
p.P113L
c.338C>T
1 paper
NM_002403.4
p.R112K
c.335G>A
1 paper
NM_002403.4
p.I110K
c.329T>A
1 paper
NM_002403.4
p.Q101P
c.302A>C
1 paper
NM_002403.4
p.D96Splc
c.286+1G>T
1 paper
NM_002403.4
p.V74V
c.222C>T
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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."