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

154 papers

NM_000155.4

p.K285N

c.855G>T

Surrounding Variants

153 papers

NM_000155.4

p.K285N

c.855G>C

1 paper

NM_000155.4

p.Y286_G299del14

c.856_896del42

4 papers

NM_000155.4

p.K285R

c.854A>G

1 paper

NM_000155.4

p.Y286H

c.856T>C

2 papers

NM_000155.4

p.Y286C

c.857A>G

1 paper

NM_000155.4

p.Y286Y

c.858T>C

1 paper

NM_000155.4

p.T284I

c.851C>T

3 papers

NM_000155.4

p.T284_K285delFs

c.852_855del4

1 paper

NM_000155.4

p.N288N

c.864C>T

4 papers

NM_000155.4

p.L289F

c.865C>T

8 papers

NM_000155.4

p.L282V

c.844C>G

4 papers

NM_000155.4

p.L289R

c.866T>G