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.T73S

c.217A>T

Surrounding Variants

1 paper

NM_003359.4

p.T73S

c.218C>G

4 papers

NM_003359.4

p.S72A

c.214T>G

6 papers

NM_003359.4

p.S72P

c.214T>C

1 paper

NM_003359.4

p.T73delFs

c.219delG

3 papers

NM_003359.4

p.F71L

c.213T>G

1 paper

NM_003359.4

p.F71F

c.213T>C

3 papers

NM_003359.4

p.F71L

c.213T>A

3 papers

NM_003359.4

p.F71L

c.211T>C

1 paper

NM_003359.4

p.D76H

c.226G>C

1 paper

NM_003359.4

p.D76N

c.226G>A

1 paper

NM_003359.4

p.D76E

c.228T>G

1 paper

NM_003359.4

p.D76E

c.228T>A