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.H315H

c.945T>C

Surrounding Variants

15 papers

NM_000155.4

p.W316*

c.947G>A

16 papers

NM_000155.4

p.W316*

c.948G>A

3 papers

NM_000155.4

p.Q317delFs

c.949delC

232 papers

NM_000155.4

p.N314D

c.940A>G

3 papers

NM_000155.4

p.Q317R

c.950A>G

3 papers

NM_000155.4

p.Q317H

c.951G>C

3 papers

NM_000155.4

p.Q317H

c.951G>T

1 paper

NM_000155.4

p.L318delFs

c.952delC

3 papers

NM_000155.4

p.W313*

c.938G>A

1 paper

NM_000155.4

p.L318Q

c.953T>A

1 paper

NM_000155.4

p.N312N

c.936C>T

1 paper

NM_000155.4

p.N312S

c.935A>G