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

11 papers

NM_003359.4

p.A44V

c.131C>T

Surrounding Variants

1 paper

NM_003359.4

p.A44A

c.132G>T

1 paper

NM_003359.4

p.R41_I42del2

c.121_125del6

6 papers

NM_003359.4

p.I42T

c.125T>C

1 paper

NM_003359.4

p.N46I

c.137A>T

1 paper

NM_003359.4

p.N46N

c.138T>C

1 paper

NM_003359.4

p.S40T

c.118T>A

1 paper

NM_003359.4

p.L50V

c.148C>G

1 paper

NM_003359.4

p.V35A

c.104T>C

1 paper

NM_003359.4

p.Y53C

c.158A>G

3 papers

NM_003359.4

p.V34D

c.101T>A

1 paper

NM_003359.4

p.E54fs

c.160_161fs

1 paper

NM_003359.4

p.T33M

c.98C>T