Varaico: Literature-Extracted Genetic Variants

GALNT7

41 papers

RefSeq Summary

This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfe...

Pfam Domains

Glycos_transf_2aa 210–399UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 533–649UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 7

HGNC Alias Symbol

GALNAC-T7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

5 papers

NM_017423.3

p.C325S

c.973T>A

5 papers

NM_017423.3

p.C325S

c.974G>C

5 papers

NM_017423.3

p.P529T

c.1585C>A

4 papers

NM_017423.3

p.R273Q

c.818G>A

2 papers

NM_017423.3

p.R87K

c.260G>A

1 paper

NM_017423.3

p.D46G

c.137A>G

1 paper

NM_017423.3

p.E76K

c.226G>A

1 paper

NM_017423.3

p.E79K

c.235G>A

1 paper

NM_017423.3

p.I85N

c.254T>A

1 paper

NM_017423.3

p.E136K

c.406G>A

1 paper

NM_017423.3

p.A240T

c.718G>A

1 paper

NM_017423.3

p.R273*

c.817C>T