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.C970fs

c.2908_2909fs

Surrounding Variants

1 paper

NM_145059.3

p.C970insFs

c.2909_2910insT

2 papers

NM_145059.3

p.S962R

c.2886C>A

2 papers

NM_145059.3

p.S962R

c.2886C>G

2 papers

NM_145059.3

p.S962R

c.2884A>C

2 papers

NM_145059.3

p.R939Q

c.2816G>A

1 paper

NM_145059.3

p.T935T

c.2805C>A

1 paper

NM_145059.3

p.T914M

c.2741C>T

1 paper

NM_145059.3

p.V908A

c.2723T>C

1 paper

NM_145059.3

p.K907delFs

c.2720delA

1 paper

NM_145059.3

p.P905_K907delins

c.2715_2719delinsCGGTGCTG

1 paper

NM_145059.3

p.P905insFs

c.2714_2715ins4

1 paper

NM_145059.3

p.R901W

c.2701C>T