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.L218P

c.653T>C

Surrounding Variants

1 paper

NM_000155.4

p.L218Q

c.653T>A

2 papers

NM_000155.4

p.L218V

c.652C>G

25 papers

NM_000155.4

p.L218L

c.652C>T

1 paper

NM_000155.4

p.L218delFs

c.652delC

6 papers

NM_000155.4

p.M219K

c.656T>A

5 papers

NM_000155.4

p.L217P

c.650T>C

1 paper

NM_000155.4

p.E220insFs

c.658dupG

1 paper

NM_000155.4

p.L218_M219del2

c.652_656del6

1 paper

NM_000155.4

p.E220_Y221del2

c.658_662del6

3 papers

NM_000155.4

p.E220K

c.658G>A

1 paper

NM_000155.4

p.P216A

c.646C>G

2 papers

NM_000155.4

p.Y221H

c.661T>C