Varaico: Literature-Extracted Genetic Variants

Gene:MFAP5
Variant:p.V58Splc

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.V58Splc
c.172+5A>G
Surrounding Variants
1 paper
NM_003480.4
p.E56*
c.166G>T
1 paper
NM_003480.4
p.L48M
c.142C>A
1 paper
NM_003480.4
p.P46H
c.137C>A
1 paper
NM_003480.4
p.T41K
c.122C>A
1 paper
NM_003480.4
p.A37E
c.110C>A
1 paper
NM_003480.4
p.V61D
c.182T>A
1 paper
NM_003480.4
p.A73Splc
c.217+1G>T
1 paper
NM_003480.4
p.N79fs
c.235_236fs
1 paper
NM_003480.4
p.N79I
c.236A>T
1 paper
NM_003480.4
p.N79insFs
c.236_237insA
1 paper
NM_003480.4
p.C84Y
c.251G>A
1 paper
NM_003480.4
p.C84W
c.252C>G
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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."