Varaico: Literature-Extracted Genetic Variants

Gene:HAS1
Variant:p.R493W

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.R493W
c.1477C>T
Surrounding Variants
1 paper
NM_001297436.2
p.G515fs
c.1543_1544fs
1 paper
NM_001297436.2
p.G515delFs
c.1544delC
1 paper
NM_001297436.2
p.M468I
c.1404G>T
1 paper
NM_001297436.2
p.M468I
c.1404G>C
1 paper
NM_001297436.2
p.M468I
c.1404G>A
2 papers
NM_001523.4
p.V521I
c.1561G>A
NM_001297436.2
p.V520I
c.1558G>A
1 paper
NM_001297436.2
p.A524D
c.1571C>A
1 paper
NM_001297436.2
p.D527N
c.1579G>A
1 paper
NM_001297436.2
p.D527E
c.1581C>G
1 paper
NM_001297436.2
p.D527E
c.1581C>A
1 paper
NM_001297436.2
p.R452W
c.1354C>T
1 paper
NM_001297436.2
p.E536insFs
c.1607_1608insG
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