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.L394R

c.1181T>G

Surrounding Variants

3 papers

NM_003359.4

p.V395M

c.1183G>A

8 papers

NM_003359.4

p.R393W

c.1177C>T

1 paper

NM_003359.4

p.P401S

c.1201C>T

1 paper

NM_003359.4

p.V391Splc

c.1172-16G>A

7 papers

NM_003359.4

p.A410S

c.1228G>T

1 paper

NM_003359.4

p.E416*

c.1246G>T

1 paper

NM_003359.4

p.E416Q

c.1246G>C

3 papers

NM_003359.4

p.E416D

c.1248G>T

3 papers

NM_003359.4

p.E416D

c.1248G>C

1 paper

NM_003359.4

p.F420S

c.1259T>C

1 paper

NM_003359.4

p.K421_E422Splc

c.1263+63A>T

1 paper

NM_003359.4

p.K421_E422Splc

c.1264-38G>A