Varaico: Literature-Extracted Genetic Variants

Gene:MFAP5
Variant:p.R126C

MFAP5

48 papers

RefSeq Summary

This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alp...

Pfam Domains

MAGPaa 2–121UCSCMicrofibril-associated glycoprotein (MAGP)

Gene Aliases

HGNC Name

microfibril associated protein 5

HGNC Alias Symbols

MAGP2; MP25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003480.4
p.R126C
c.376C>T
Surrounding Variants
2 papers
NM_003480.4
p.R114Q
c.341G>A
1 paper
NM_003480.4
p.L113insFs
c.338dupT
1 paper
NM_003480.4
p.L113fs
c.337_338fs
1 paper
NM_003480.4
p.P100P
c.300G>T
1 paper
NM_003480.4
p.R93K
c.278G>A
1 paper
NM_003480.4
p.D137Splc
c.410-286T>C
1 paper
NM_003480.4
p.C84W
c.252C>G
1 paper
NM_003480.4
p.C84Y
c.251G>A
1 paper
NM_003480.4
p.L139V
c.415C>G
1 paper
NM_003480.4
p.R141H
c.422G>A
2 papers
NM_003480.4
p.P148S
c.442C>T
1 paper
NM_003480.4
p.P148delFs
c.444delA
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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."