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

3 papers

NM_000155.4

p.F131C

c.392T>G

Surrounding Variants

1 paper

NM_000155.4

p.F131S

c.392T>C

1 paper

NM_000155.4

p.H132N

c.394C>A

6 papers

NM_000155.4

p.H132Y

c.394C>T

1 paper

NM_000155.4

p.P133insFs

c.399dupC

3 papers

NM_000155.4

p.C130Y

c.389G>A

8 papers

NM_000155.4

p.H132Q

c.396C>A

8 papers

NM_000155.4

p.H132Q

c.396C>G

4 papers

NM_000155.4

p.M129T

c.386T>C

8 papers

NM_000155.4

p.W134delFs

c.400delT

3 papers

NM_000155.4

p.W134fs

c.400_401fs

1 paper

NM_000155.4

p.W134fs

c.400_401fs

7 papers

NM_000155.4

p.V128I

c.382G>A