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

78 papers

NM_000155.4

p.L195P

c.584T>C

Surrounding Variants

2 papers

NM_000155.4

p.L195L

c.583C>T

11 papers

NM_000155.4

p.F194L

c.582C>A

11 papers

NM_000155.4

p.F194L

c.582C>G

14 papers

NM_000155.4

p.F194L

c.580T>C

3 papers

NM_000155.4

p.D197G

c.590A>G

1 paper

NM_000155.4

p.D197E

c.591T>G

1 paper

NM_000155.4

p.I198delFs

c.594delT

7 papers

NM_000155.4

p.S192N

c.575G>A

2 papers

NM_000155.4

p.I198T

c.593T>C

1 paper

NM_000155.4

p.S192fs

c.574_575fs

3 papers

NM_000155.4

p.S192G

c.574A>G

3 papers

NM_000155.4

p.I198M

c.594T>G