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

17 papers

NM_000155.4

p.E340*

c.1018G>T

Surrounding Variants

11 papers

NM_000155.4

p.E340K

c.1018G>A

2 papers

NM_000155.4

p.Y339C

c.1016A>G

1 paper

NM_000155.4

p.Y339fs

c.1015_1016fs

7 papers

NM_000155.4

p.G338G

c.1014C>G

2 papers

NM_000155.4

p.L342I

c.1024C>A

1 paper

NM_000155.4

p.V337I

c.1009G>A

5 papers

NM_000155.4

p.M336L

c.1006A>C

5 papers

NM_000155.4

p.M336L

c.1006A>T

15 papers

NM_000155.4

p.Q344K

c.1030C>A

3 papers

NM_000155.4

p.Q344*

c.1030C>T

1 paper

NM_000155.4

p.Q344R

c.1031A>G

2 papers

NM_000155.4

p.F335L

c.1005C>A