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

3 papers

NM_003359.4

p.L240V

c.718C>G

Surrounding Variants

1 paper

NM_003359.4

p.L240M

c.718C>A

1 paper

NM_003359.4

p.S238delFs

c.714delA

1 paper

NM_003359.4

p.S238fs

c.712_713fs

1 paper

NM_003359.4

p.S236P

c.706T>C

3 papers

NM_003359.4

p.T244K

c.731C>A

1 paper

NM_003359.4

p.A246T

c.736G>A

1 paper

NM_003359.4

p.A246D

c.737C>A

2 papers

NM_003359.4

p.S233G

c.697A>G

1 paper

NM_003359.4

p.S232C

c.694A>T

1 paper

NM_003359.4

p.A252T

c.754G>A

1 paper

NM_003359.4

p.F226S

c.677T>C

7 papers

NM_003359.4

p.I255T

c.764T>C