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.T19K

c.56C>A

Surrounding Variants

1 paper

NM_003359.4

p.P18S

c.52C>T

1 paper

NM_003359.4

p.G17A

c.50G>C

1 paper

NM_003359.4

p.Y14delFs

c.41_42delAT

1 paper

NM_003359.4

p.Y14fs

c.40_41fs

6 papers

NM_003359.4

p.A24T

c.70G>A

3 papers

NM_003359.4

p.A24V

c.71C>T

1 paper

NM_003359.4

p.A24D

c.71C>A

7 papers

NM_003359.4

p.Y14C

c.41A>G

1 paper

NM_003359.4

p.Y14delFs

c.40delA

1 paper

NM_003359.4

p.A24A

c.72T>A

1 paper

NM_003359.4

p.G13R

c.37G>C

2 papers

NM_003359.4

p.G11S

c.31G>A