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

4 papers

NM_000155.4

p.S181A

c.541T>G

Surrounding Variants

2 papers

NM_000155.4

p.S181F

c.542C>T

2 papers

NM_000155.4

p.C180F

c.539G>T

1 paper

NM_000155.4

p.N182N

c.546C>T

9 papers

NM_000155.4

p.G179D

c.536G>A

11 papers

NM_000155.4

p.P183T

c.547C>A

1 paper

NM_000155.4

p.G179S

c.535G>A

3 papers

NM_000155.4

p.M178R

c.533T>G

1 paper

NM_000155.4

p.H184fs

c.550_551fs

2 papers

NM_000155.4

p.H184D

c.550C>G

1 paper

NM_000155.4

p.H184delFs

c.551delA

1 paper

NM_000155.4

p.H184fs

c.550_551fs

1 paper

NM_000155.4

p.H184delFs

c.552delC