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

10 papers

NM_000155.4

p.L139P

c.416T>C

Surrounding Variants

1 paper

NM_000155.4

p.L139L

c.415C>T

36 papers

NM_000155.4

p.T138M

c.413C>T

1 paper

NM_000155.4

p.T138fs

c.412_413fs

1 paper

NM_000155.4

p.L141F

c.421C>T

1 paper

NM_000155.4

p.V137insFs

c.410dupT

6 papers

NM_000155.4

p.M142V

c.424A>G

35 papers

NM_000155.4

p.M142K

c.425T>A

5 papers

NM_000155.4

p.M142T

c.425T>C

1 paper

NM_000155.4

p.M142R

c.425T>G

2 papers

NM_000155.4

p.D136H

c.406G>C

1 paper

NM_000155.4

p.D136delFs

c.407delA

2 papers

NM_000155.4

p.S143P

c.427T>C