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

6 papers

NM_000155.4

p.R223S

c.667C>A

Surrounding Variants

3 papers

NM_001258332.2

p.R114C

c.340C>T

NM_000155.4

p.R223C

c.667C>T

1 paper

NM_000155.4

p.S222R

c.666C>A

1 paper

NM_000155.4

p.S222R

c.666C>G

2 papers

NM_000155.4

p.S222N

c.665G>A

1 paper

NM_000155.4

p.S222delFs

c.666delC

1 paper

NM_000155.4

p.S222R

c.664A>C

2 papers

NM_000155.4

p.Y221H

c.661T>C

1 paper

NM_000155.4

p.E225G

c.674A>G

1 paper

NM_000155.4

p.L226V

c.676C>G

3 papers

NM_000155.4

p.E220K

c.658G>A

1 paper

NM_000155.4

p.E220_Y221del2

c.658_662del6

8 papers

NM_000155.4

p.L226P

c.677T>C