Varaico: Literature-Extracted Genetic Variants

UGDH

196 papers

RefSeq Summary

The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate...

Pfam Domains

UDPG_MGDP_dh_Naa 5–195UCSCUDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain

UDPG_MGDP_dhaa 214–309UCSCUDP-glucose/GDP-mannose dehydrogenase family, central domain

UDPG_MGDP_dh_Caa 332–447UCSCUDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain

Gene Aliases

HGNC Name

UDP-glucose 6-dehydrogenase

HGNC Alias Symbols

GDH; UDPGDH; UDP-GlcDH; UGD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_003359.4

p.M306V

c.916A>G

Surrounding Variants

1 paper

NM_003359.4

p.D305E

c.915C>G

1 paper

NM_003359.4

p.D305E

c.915C>A

1 paper

NM_003359.4

p.D305A

c.914A>C

1 paper

NM_003359.4

p.D305N

c.913G>A

6 papers

NM_003359.4

p.V303I

c.907G>A

1 paper

NM_003359.4

p.R313K

c.938G>A

1 paper

NM_003359.4

p.S316A

c.946T>G

1 paper

NM_003359.4

p.R317W

c.949C>T

13 papers

NM_003359.4

p.R317Q

c.950G>A

1 paper

NM_003359.4

p.I319V

c.955A>G

1 paper

NM_003359.4

p.L322L

c.966G>C

1 paper

NM_003359.4

p.T325A

c.973A>G