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

1 paper

NM_003359.4

p.Y352insFs

c.1056dupT

Surrounding Variants

1 paper

NM_003359.4

p.I353fs

c.1057_1058fs

1 paper

NM_003359.4

p.K355E

c.1063A>G

1 paper

NM_003359.4

p.S350G

c.1048A>G

6 papers

NM_003359.4

p.Y356*

c.1068T>G

5 papers

NM_003359.4

p.Y356*

c.1068T>A

1 paper

NM_003359.4

p.S349T

c.1045T>A

1 paper

NM_003359.4

p.M358L

c.1072A>C

1 paper

NM_003359.4

p.M358T

c.1073T>C

1 paper

NM_003359.4

p.R346Splc

c.1038-2A>G

1 paper

NM_003359.4

p.A362T

c.1084G>A

1 paper

NM_003359.4

p.L364V

c.1090C>G

7 papers

NM_003359.4

p.Y367C

c.1100A>G