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

1 paper

NM_000155.4

p.E146*

c.436G>T

Surrounding Variants

1 paper

NM_000155.4

p.E146D

c.438G>C

1 paper

NM_000155.4

p.E146D

c.438G>T

1 paper

NM_000155.4

p.P145ins1

c.433_434insTGC

3 papers

NM_000155.4

p.R148G

c.442C>G

22 papers

NM_000155.4

p.R148W

c.442C>T

22 papers

NM_000155.4

p.R148Q

c.443G>A

2 papers

NM_000155.4

p.R148P

c.443G>C

1 paper

NM_000155.4

p.S143W

c.428C>G

11 papers

NM_000155.4

p.S143L

c.428C>T

1 paper

NM_000155.4

p.A149P

c.445G>C

2 papers

NM_000155.4

p.S143P

c.427T>C

1 paper

NM_000155.4

p.A149V

c.446C>T