Varaico: Literature-Extracted Genetic Variants

Gene:HAS2
Variant:p.L533L

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.L533L
c.1599C>T
Surrounding Variants
1 paper
NM_005328.3
p.E506*
c.1516G>T
1 paper
NM_005328.3
p.K501N
c.1503A>T
1 paper
NM_005328.3
p.K501N
c.1503A>C
3 papers
NM_005328.3
p.E499V
c.1496A>T
1 paper
NM_005328.3
p.K498E
c.1492A>G
1 paper
NM_005328.3
p.P449S
c.1345C>T
1 paper
NM_005328.3
p.F423L
c.1269T>G
1 paper
NM_005328.3
p.F423L
c.1269T>A
1 paper
NM_005328.3
p.F423L
c.1267T>C
1 paper
NM_005328.3
p.S421*
c.1262C>G
1 paper
NM_005328.3
p.S421*
c.1262C>A
1 paper
NM_005328.3
p.F409I
c.1225T>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."