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.Q169_I170Splc

c.508-17G>A

Surrounding Variants

27 papers

NM_000155.4

p.Q169_I170Splc

c.508-24G>A

2 papers

NM_000155.4

p.I170N

c.509T>A

4 papers

NM_000155.4

p.I170T

c.509T>C

2 papers

NM_000155.4

p.I170I

c.510C>A

1 paper

NM_000155.4

p.I170I

c.510C>T

2 papers

NM_000155.4

p.F171L

c.511T>C

2 papers

NM_000155.4

p.F171Y

c.512T>A

40 papers

NM_000155.4

p.F171S

c.512T>C

2 papers

NM_000155.4

p.F171C

c.512T>G

2 papers

NM_000155.4

p.F171L

c.513T>A

2 papers

NM_000155.4

p.F171L

c.513T>G

13 papers

NM_000155.4

p.G175D

c.524G>A