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

5 papers

NM_000150.4

p.R303G

c.907C>G

Surrounding Variants

2 papers

NM_000150.4

p.R303Q

c.908G>A

1 paper

NM_000150.4

p.P298S

c.892C>T

1 paper

NM_000150.4

p.D309N

c.925G>A

1 paper

NM_000150.4

p.D293D

c.879C>T

1 paper

NM_000150.4

p.R314H

c.941G>A

5 papers

NM_000150.4

p.Y315*

c.945C>G

9 papers

NM_000150.4

p.Y315*

c.945C>A

1 paper

NM_000150.4

p.R320H

c.959G>A

3 papers

NM_000150.4

p.P285P

c.855A>G

1 paper

NM_000150.4

p.P285L

c.854C>T

2 papers

NM_000150.4

p.R322W

c.964C>T

1 paper

NM_000150.4

p.R322Q

c.965G>A