Varaico: Literature-Extracted Genetic Variants

Gene:HAS1
Variant:p.W211*

HAS1

44 papers

RefSeq Summary

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular m...

Pfam Domains

Glyco_tranf_2_3aa 187–381UCSCGlycosyltransferase like family 2

Gene Aliases

HGNC Name

hyaluronan synthase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297436.2
p.W211*
c.632G>A
Surrounding Variants
1 paper
NM_001297436.2
p.G212R
c.634G>C
1 paper
NM_001297436.2
p.G212V
c.635G>T
1 paper
NM_001297436.2
p.G213V
c.638G>T
1 paper
NM_001297436.2
p.E216K
c.646G>A
1 paper
NM_001297436.2
p.S228A
c.682T>G
1 paper
NM_001297436.2
p.Q233_V234Splc
c.699+1G>T
1 paper
NM_001297436.2
p.T158T
c.474G>C
1 paper
NM_001297436.2
p.V133L
c.397G>T
1 paper
NM_001297436.2
p.V133L
c.397G>C
1 paper
NM_001297436.2
p.M131L
c.391A>T
1 paper
NM_001297436.2
p.R126P
c.377G>C
1 paper
NM_001297436.2
p.P123T
c.367C>A
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