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

2 papers

NM_000155.4

p.Q206R

c.617A>G

Surrounding Variants

1 paper

NM_000155.4

p.Q206*

c.616C>T

4 papers

NM_000155.4

p.Q207*

c.619C>T

3 papers

NM_000155.4

p.R204Q

c.611G>A

9 papers

NM_000155.4

p.R204P

c.611G>C

23 papers

NM_000155.4

p.R204*

c.610C>T

1 paper

NM_000155.4

p.E203E

c.609G>A

11 papers

NM_000155.4

p.Y209S

c.626A>C

26 papers

NM_000155.4

p.Y209C

c.626A>G

16 papers

NM_000155.4

p.E203K

c.607G>A

1 paper

NM_000155.4

p.Y209*

c.627T>A

1 paper

NM_000155.4

p.Y209*

c.627T>G

1 paper

NM_000155.4

p.K210E

c.628A>G