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

1–12 of 273 variants

15 papers

NM_003359.4

p.R443S

c.1327C>A

13 papers

NM_003359.4

p.R317Q

c.950G>A

12 papers

NM_003359.4

p.G456A

c.1367G>C

11 papers

NM_003359.4

p.A44V

c.131C>T

9 papers

NM_003359.4

p.A82T

c.244G>A

8 papers

NM_003359.4

p.R65*

c.193C>T

8 papers

NM_003359.4

p.R393W

c.1177C>T

7 papers

NM_003359.4

p.Y14C

c.41A>G

7 papers

NM_003359.4

p.I255T

c.764T>C

7 papers

NM_003359.4

p.M306V

c.916A>G

7 papers

NM_003359.4

p.Y367C

c.1100A>G

7 papers

NM_003359.4

p.A410S

c.1228G>T