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.F294delFs

c.882delT

Surrounding Variants

1 paper

NM_000155.4

p.S293S

c.879C>T

1 paper

NM_000155.4

p.S293F

c.878C>T

14 papers

NM_000155.4

p.F294Y

c.881T>A

3 papers

NM_000155.4

p.T292T

c.876G>A

4 papers

NM_000155.4

p.P295T

c.883C>A

2 papers

NM_000155.4

p.E291V

c.872A>T

8 papers

NM_000155.4

p.E291K

c.871G>A

2 papers

NM_000155.4

p.S297P

c.889T>C

1 paper

NM_000155.4

p.M298_H301del4

c.892_902del12

1 paper

NM_000155.4

p.M298V

c.892A>G

4 papers

NM_000155.4

p.L289R

c.866T>G

4 papers

NM_000155.4

p.L289F

c.865C>T