Varaico: Literature-Extracted Genetic Variants

GALNT6

55 papers

RefSeq Summary

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in...

Pfam Domains

Glycos_transf_2aa 180–366UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 497–619UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 6

HGNC Alias Symbol

GalNAc-T6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007210.4

p.R465R

c.1395A>G

Surrounding Variants

1 paper

NM_007210.4

p.E470K

c.1408G>A

1 paper

NM_007210.4

p.E456_K457Splc

c.1369-5G>A

1 paper

NM_007210.4

p.N483S

c.1448A>G

1 paper

NM_007210.4

p.I501M

c.1503C>G

1 paper

NM_007210.4

p.R517H

c.1550G>A

1 paper

NM_007210.4

p.G518R

c.1552G>C

1 paper

NM_007210.4

p.G518R

c.1552G>A

1 paper

NM_007210.4

p.Q449H

c.1347G>T

1 paper

NM_007210.4

p.Q449H

c.1347G>C

1 paper

NM_007210.4

p.K441_I442del2

c.1321_1325del6

1 paper

NM_007210.4

p.R426H

c.1277G>A

1 paper

NM_007210.4

p.R426C

c.1276C>T