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.T772A

c.2314A>G

Surrounding Variants

1 paper

NM_145059.3

p.R778P

c.2333G>C

1 paper

NM_145059.3

p.P756L

c.2267C>T

1 paper

NM_145059.3

p.A750V

c.2249C>T

1 paper

NM_145059.3

p.P747L

c.2240C>T

1 paper

NM_145059.3

p.R746W

c.2236C>T

1 paper

NM_145059.3

p.G719E

c.2156G>A

1 paper

NM_145059.3

p.G719E

c.2156G>A

1 paper

NM_145059.3

p.R714C

c.2140C>T

1 paper

NM_145059.3

p.P701L

c.2102C>T

1 paper

NM_145059.3

p.Q684*

c.2050C>T

5 papers

NM_145059.3

p.R683C

c.2047C>T

1 paper

NM_145059.3

p.G676_A677delFs

c.2028_2029delGG