Varaico: Literature-Extracted Genetic Variants

Gene:HAS2
Variant:p.M1K

HAS2

58 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

Chitin_synth_2aa 193–367UCSCChitin synthase

Gene Aliases

HGNC Name

hyaluronan synthase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005328.3
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_005328.3
p.L23L
c.69C>G
1 paper
NM_005328.3
p.G33V
c.98G>T
1 paper
NM_005328.3
p.I37N
c.110T>A
1 paper
NM_005328.3
p.T39T
c.117G>A
1 paper
NM_005328.3
p.Y49H
c.145T>C
1 paper
NM_005328.3
p.F52S
c.155T>C
1 paper
NM_005328.3
p.S61S
c.183C>T
1 paper
NM_005328.3
p.S74C
c.221C>G
1 paper
NM_005328.3
p.T77N
c.230C>A
1 paper
NM_005328.3
p.L99S
c.296T>C
1 paper
NM_005328.3
p.T110A
c.328A>G
1 paper
NM_005328.3
p.N151S
c.452A>G
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