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.D440E

c.1320T>A

Surrounding Variants

1 paper

NM_003359.4

p.D440E

c.1320T>G

2 papers

NM_003359.4

p.D440N

c.1318G>A

6 papers

NM_003359.4

p.R442W

c.1324C>T

15 papers

NM_003359.4

p.R443S

c.1327C>A

7 papers

NM_003359.4

p.R443H

c.1328G>A

1 paper

NM_003359.4

p.P435A

c.1303C>G

1 paper

NM_003359.4

p.L448F

c.1342C>T

1 paper

NM_003359.4

p.M432delFs

c.1294delT

6 papers

NM_003359.4

p.H449R

c.1346A>G

1 paper

NM_003359.4

p.N450I

c.1349A>T

1 paper

NM_003359.4

p.E451K

c.1351G>A

1 paper

NM_003359.4

p.H429_K430ins5

c.1285_1289ins15