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

11 papers

NM_000155.4

p.D274Splc

c.821-7A>G

Surrounding Variants

3 papers

NM_000155.4

p.D274Splc

c.821-2A>G

1 paper

NM_000155.4

p.D274fs

c.820_821fs

2 papers

NM_000155.4

p.L275fs

c.823_824fs

2 papers

NM_000155.4

p.L275V

c.823C>G

5 papers

NM_000155.4

p.L275delFs

c.824delT

1 paper

NM_000155.4

p.L275fs

c.823_824fs

1 paper

NM_000155.4

p.A276delins

c.826_827delinsAA

1 paper

NM_000155.4

p.A276Fs

c.827delinsAAFs

2 papers

NM_000155.4

p.S277P

c.829T>C

5 papers

NM_000155.4

p.I278N

c.833T>A

1 paper

NM_000155.4

p.I278T

c.833T>C

1 paper

NM_000155.4

p.M279R

c.836T>G