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.C325S

c.973T>A

Surrounding Variants

5 papers

NM_017423.3

p.C325S

c.974G>C

1 paper

NM_017423.3

p.I341V

c.1021A>G

1 paper

NM_017423.3

p.R364W

c.1090C>T

1 paper

NM_017423.3

p.R375K

c.1124G>A

1 paper

NM_017423.3

p.R383W

c.1147C>T

1 paper

NM_017423.3

p.I318I

c.954A>T

1 paper

NM_017423.3

p.R284Q

c.851G>A

4 papers

NM_017423.3

p.R273Q

c.818G>A

1 paper

NM_017423.3

p.R273*

c.817C>T

1 paper

NM_017423.3

p.R396Q

c.1187G>A

1 paper

NM_017423.3

p.F398V

c.1192T>G

1 paper

NM_017423.3

p.Y405N

c.1213T>A