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.R333L

c.998G>T

Surrounding Variants

13 papers

NM_000155.4

p.R333Q

c.998G>A

19 papers

NM_000155.4

p.R333G

c.997C>G

59 papers

NM_000155.4

p.R333W

c.997C>T

1 paper

NM_000155.4

p.R333R

c.999G>A

13 papers

NM_000155.4

p.K334R

c.1001A>G

1 paper

NM_000155.4

p.K334delins

c.1001delinsT

1 paper

NM_000155.4

p.K334Fs

c.1001_1002delinsTFs

2 papers

NM_000155.4

p.F335L

c.1003T>C

2 papers

NM_000155.4

p.F335L

c.1005C>A

2 papers

NM_000155.4

p.F335L

c.1005C>G

5 papers

NM_000155.4

p.M336L

c.1006A>C

5 papers

NM_000155.4

p.M336L

c.1006A>T