Varaico: Literature-Extracted Genetic Variants

FCSK

91 papers

RefSeq Summary

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosph...

Pfam Domains

Fucose_pyrophosphorylaseaa 82–496UCSCFucose pyrophosphorylase domain

GHMP_kinases_Naa 808–894UCSCGHMP kinases N terminal domain

GHMP_kinases_Caa 970–1051UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

fucose kinase

HGNC Previous Symbol

FUK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145059.3

p.E274E

c.822G>A

Surrounding Variants

1 paper

NM_145059.3

p.R304W

c.910C>T

1 paper

NM_145059.3

p.R309R

c.927G>A

2 papers

NM_145059.3

p.G256R

c.766G>A

1 paper

NM_145059.3

p.G256R

c.766G>C

1 paper

NM_145059.3

p.L245L

c.733C>T

1 paper

NM_145059.3

p.F228Y

c.683T>A

5 papers

NM_145059.3

p.S223P

c.667T>C

1 paper

NM_145059.3

p.Y326_S327delFs

c.978_979delCA

1 paper

NM_145059.3

p.S327fs

c.979_980fs

4 papers

NM_145059.3

p.S331_L337delFs

c.993_1011del19

1 paper

NM_145059.3

p.A333D

c.998C>A

3 papers

NM_145059.3

p.E335fs

c.1003_1004fs