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.I200T

c.599T>C

Surrounding Variants

1 paper

NM_145059.3

p.Y201_Y202insAC

c.601_605ins6

1 paper

NM_145059.3

p.Q203E

c.607C>G

1 paper

NM_145059.3

p.E208Q

c.622G>C

1 paper

NM_145059.3

p.P215H

c.644C>A

1 paper

NM_145059.3

p.V173L

c.517G>T

1 paper

NM_145059.3

p.F168del1

c.502_503delTTC

1 paper

NM_145059.3

p.I163V

c.487A>G

5 papers

NM_145059.3

p.S223P

c.667T>C

1 paper

NM_145059.3

p.F228Y

c.683T>A

2 papers

NM_145059.3

p.V146M

c.436G>A

1 paper

NM_145059.3

p.P143L

c.428C>T

1 paper

NM_145059.3

p.S142F

c.425C>T