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

7 papers

NM_003359.4

p.I255T

c.764T>C

Surrounding Variants

1 paper

NM_003359.4

p.A252T

c.754G>A

1 paper

NM_003359.4

p.Q259*

c.775C>T

1 paper

NM_003359.4

p.Q259H

c.777G>T

1 paper

NM_003359.4

p.Q259H

c.777G>C

1 paper

NM_003359.4

p.I261T

c.782T>C

1 paper

NM_003359.4

p.A246D

c.737C>A

1 paper

NM_003359.4

p.A246T

c.736G>A

3 papers

NM_003359.4

p.T244K

c.731C>A

1 paper

NM_003359.4

p.S269N

c.806G>A

3 papers

NM_003359.4

p.L240V

c.718C>G

1 paper

NM_003359.4

p.L240M

c.718C>A

4 papers

NM_003359.4

p.G271R

c.811G>C