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

1–12 of 646 variants

358 papers

NM_000155.4

p.Q188R

c.563A>G

232 papers

NM_000155.4

p.N314D

c.940A>G

164 papers

NM_000155.4

p.S135L

c.404C>T

154 papers

NM_000155.4

p.K285N

c.855G>T

153 papers

NM_000155.4

p.K285N

c.855G>C

78 papers

NM_000155.4

p.L195P

c.584T>C

59 papers

NM_000155.4

p.R333W

c.997C>T

40 papers

NM_000155.4

p.F171S

c.512T>C

36 papers

NM_000155.4

p.T138M

c.413C>T

35 papers

NM_000155.4

p.M142K

c.425T>A

30 papers

NM_000155.4

p.A320T

c.958G>A

27 papers

NM_000155.4

p.Q169_I170Splc

c.508-24G>A