Varaico: Literature-Extracted Genetic Variants

Gene:HAS3
Variant:p.R71Q

HAS3

39 papers

RefSeq Summary

The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is...

Pfam Domains

Glyco_tranf_2_3aa 159–360UCSCGlycosyltransferase like family 2

Gene Aliases

HGNC Name

hyaluronan synthase 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199280.2
p.R71Q
c.212G>A
Surrounding Variants
1 paper
NM_001199280.2
p.G49G
c.147C>T
4 papers
NM_001199280.2
p.A93A
c.279A>G
1 paper
NM_001199280.2
p.G46S
c.136G>A
1 paper
NM_001199280.2
p.H41Y
c.121C>T
1 paper
NM_001199280.2
p.H37R
c.110A>G
1 paper
NM_001199280.2
p.R110H
c.329G>A
1 paper
NM_001199280.2
p.T31T
c.93G>T
1 paper
NM_001199280.2
p.T31M
c.92C>T
1 paper
NM_001199280.2
p.F113L
c.337T>C
1 paper
NM_001199280.2
p.F113L
c.339C>A
1 paper
NM_001199280.2
p.F113L
c.339C>G
1 paper
NM_001199280.2
p.R10H
c.29G>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."