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.G302Splc

c.904+1G>A

Surrounding Variants

7 papers

NM_000155.4

p.G302Splc

c.904+1G>T

1 paper

NM_000155.4

p.G302R

c.904G>A

1 paper

NM_000155.4

p.G302R

c.904G>C

1 paper

NM_000155.4

p.G302Splc

c.904+2T>C

2 papers

NM_000155.4

p.W300*

c.900G>A

1 paper

NM_000155.4

p.W300C

c.900G>C

1 paper

NM_000155.4

p.W300C

c.900G>T

4 papers

NM_000155.4

p.W300*

c.899G>A

1 paper

NM_000155.4

p.G299D

c.896G>A

2 papers

NM_000155.4

p.M298I

c.894G>A

2 papers

NM_000155.4

p.M298I

c.894G>C

2 papers

NM_000155.4

p.M298I

c.894G>T