Varaico: Literature-Extracted Genetic Variants

FUT6

105 papers

RefSeq Summary

The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 ...

Pfam Domains

Glyco_tran_10_Naa 59–169UCSCFucosyltransferase, N-terminal

Glyco_transf_10aa 185–357UCSCGlycosyltransferase family 10 (fucosyltransferase) C-term

Gene Aliases

HGNC Name

fucosyltransferase 6

HGNC Alias Symbols

FT1A; FCT3A; FucT-VI; FLJ40754

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000150.4

p.R126W

c.376C>T

Surrounding Variants

1 paper

NM_000150.4

p.R126Q

c.377G>A

2 papers

NM_000150.4

p.P124L

c.371C>T

11 papers

NM_000150.4

p.P124S

c.370C>T

1 paper

NM_000150.4

p.R122fs

c.364_365fs

1 paper

NM_000150.4

p.R130*

c.388C>T

1 paper

NM_000150.4

p.R122C

c.364C>T

1 paper

NM_000150.4

p.R122insFs

c.364_365insA

1 paper

NM_000150.4

p.R130Q

c.389G>A

1 paper

NM_000150.4

p.L120V

c.358C>G

1 paper

NM_000150.4

p.M136V

c.406A>G

1 paper

NM_000150.4

p.V112V

c.336C>A

1 paper

NM_000150.4

p.V112I

c.334G>A