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

Selected Variant

5 papers

NM_017423.3

p.P529T

c.1585C>A

Surrounding Variants

1 paper

NM_017423.3

p.P529P

c.1587C>G

1 paper

NM_017423.3

p.K508R

c.1523A>G

1 paper

NM_017423.3

p.D504H

c.1510G>C

1 paper

NM_017423.3

p.S496P

c.1486T>C

1 paper

NM_017423.3

p.E541K

c.1621G>A

1 paper

NM_017423.3

p.R628P

c.1883G>C