Varaico: Literature-Extracted Genetic Variants

Gene:HAS1
Variant:p.A429V

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
2 papers
NM_001297436.2
p.A429V
c.1286C>T
Surrounding Variants
1 paper
NM_001297436.2
p.W432S
c.1295G>C
1 paper
NM_001297436.2
p.A416V
c.1247C>T
1 paper
NM_001297436.2
p.P411T
c.1231C>A
1 paper
NM_001297436.2
p.R452W
c.1354C>T
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
1 paper
NM_001297436.2
p.N389N
c.1167C>T
1 paper
NM_001297436.2
p.W386R
c.1156T>C
1 paper
NM_001297436.2
p.W386R
c.1156T>A
1 paper
NM_001297436.2
p.Q375R
c.1124A>G
1 paper
NM_001297436.2
p.R493W
c.1477C>T
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