Varaico: Literature-Extracted Genetic Variants

GALT

653 papers

RefSeq Summary

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosp...

Pfam Domains

GalP_UDP_transfaa 22–196UCSCGalactose-1-phosphate uridyl transferase, N-terminal domain

GalP_UDP_tr_Caa 202–370UCSCGalactose-1-phosphate uridyl transferase, C-terminal domain

Gene Aliases

HGNC Name

galactose-1-phosphate uridylyltransferase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000155.4

p.Y209*

c.627T>A

Surrounding Variants

1 paper

NM_000155.4

p.Y209*

c.627T>G

11 papers

NM_000155.4

p.Y209S

c.626A>C

26 papers

NM_000155.4

p.Y209C

c.626A>G

1 paper

NM_000155.4

p.K210E

c.628A>G

12 papers

NM_000155.4

p.Q212*

c.634C>T

1 paper

NM_000155.4

p.Q212P

c.635A>C

4 papers

NM_000155.4

p.Q207*

c.619C>T

1 paper

NM_000155.4

p.Q212H

c.636G>C

1 paper

NM_000155.4

p.Q212H

c.636G>T

2 papers

NM_000155.4

p.Q206R

c.617A>G

1 paper

NM_000155.4

p.Q206*

c.616C>T

1 paper

NM_000155.4

p.G214R

c.640G>A