Varaico: Literature-Extracted Genetic Variants

Gene:MFAP4
Variant:p.C34S

MFAP4

11 papers

RefSeq Summary

This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular m...

Pfam Domains

Fibrinogen_Caa 37–255UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

microfibril associated protein 4

HGNC Previous Name

microfibrillar associated protein 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002404.3
p.C34S
c.100T>A
Surrounding Variants
1 paper
NM_002404.3
p.C34S
c.101G>C
1 paper
NM_002404.3
p.Q37*
c.109C>T
1 paper
NM_002404.3
p.P38S
c.112C>T
1 paper
NM_002404.3
p.M117L
c.349A>T
1 paper
NM_002404.3
p.M117L
c.349A>C
1 paper
NM_002404.3
p.A156T
c.466G>A
1 paper
NM_002404.3
p.S186F
c.557C>T
1 paper
NM_002404.3
p.S203A
c.607T>G
1 paper
NM_002404.3
p.S203Y
c.608C>A
1 paper
NM_002404.3
p.H226Q
c.678C>G
1 paper
NM_002404.3
p.H226Q
c.678C>A
1 paper
NM_002404.3
p.M250K
c.749T>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."