Varaico: Literature-Extracted Genetic Variants

Gene:HAS3
Variant:p.G315R

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
2 papers
NM_001199280.2
p.G315R
c.943G>A
Surrounding Variants
2 papers
NM_001199280.2
p.G315R
c.943G>C
1 paper
NM_001199280.2
p.R318W
c.952C>T
1 paper
NM_001199280.2
p.S326S
c.978C>T
1 paper
NM_001199280.2
p.L287F
c.861G>C
1 paper
NM_001199280.2
p.R356H
c.1067G>A
1 paper
NM_001199280.2
p.G387S
c.1159G>A
1 paper
NM_001199280.2
p.T396M
c.1187C>T
1 paper
NM_001199280.2
p.G404delFs
c.1211delG
1 paper
NM_001199280.2
p.F438I
c.1312T>A
1 paper
NM_001199280.2
p.F512C
c.1535T>G
1 paper
NM_001199280.2
p.A200A
c.600C>T
1 paper
NM_001199280.2
p.R173H
c.518G>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."