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.I331K

c.992T>A

Surrounding Variants

1 paper

NM_003359.4

p.A332P

c.994G>C

1 paper

NM_003359.4

p.D328Y

c.982G>T

1 paper

NM_003359.4

p.G335R

c.1003G>C

1 paper

NM_003359.4

p.G335R

c.1003G>A

1 paper

NM_003359.4

p.A337V

c.1010C>T

1 paper

NM_003359.4

p.T325A

c.973A>G

1 paper

NM_003359.4

p.F338fs

c.1012_1013fs

1 paper

NM_003359.4

p.F338delFs

c.1014delG

1 paper

NM_003359.4

p.L322L

c.966G>C

1 paper

NM_003359.4

p.I319V

c.955A>G

13 papers

NM_003359.4

p.R317Q

c.950G>A

1 paper

NM_003359.4

p.R317W

c.949C>T