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

3 papers

NM_145059.3

p.D132H

c.394G>C

Surrounding Variants

1 paper

NM_145059.3

p.L127P

c.380T>C

3 papers

NM_145059.3

p.L127M

c.379C>A

1 paper

NM_145059.3

p.E114Q

c.340G>C

3 papers

NM_145059.3

p.P112L

c.335C>T

1 paper

NM_145059.3

p.R106S

c.318G>C

1 paper

NM_145059.3

p.R106S

c.318G>T

1 paper

NM_145059.3

p.R137_L138Splc

c.412-2A>G

1 paper

NM_145059.3

p.S142F

c.425C>T

1 paper

NM_145059.3

p.P143L

c.428C>T

2 papers

NM_145059.3

p.V146M

c.436G>A

1 paper

NM_145059.3

p.I163V

c.487A>G

1 paper

NM_145059.3

p.F168del1

c.502_503delTTC