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

5 papers

NM_000155.4

p.Q169H

c.507G>C

Surrounding Variants

5 papers

NM_000155.4

p.Q169H

c.507G>T

1 paper

NM_000155.4

p.Q169P

c.506A>C

10 papers

NM_000155.4

p.Q169K

c.505C>A

3 papers

NM_000155.4

p.Q169_I170Splc

c.507+2T>C

3 papers

NM_000155.4

p.V168M

c.502G>A

6 papers

NM_000155.4

p.V168L

c.502G>C

6 papers

NM_000155.4

p.V168L

c.502G>T

4 papers

NM_000155.4

p.W167R

c.499T>A

4 papers

NM_000155.4

p.W167R

c.499T>C

1 paper

NM_000155.4

p.V168delFs

c.502delG

1 paper

NM_000155.4

p.Q169_I170Splc

c.507+10G>A

2 papers

NM_000155.4

p.P166A

c.496C>G