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

7 papers

NM_145059.3

p.K994Q

c.2980A>C

Surrounding Variants

1 paper

NM_145059.3

p.Q992_K993del1

c.2975_2977delAGA

1 paper

NM_145059.3

p.C985Y

c.2954G>A

3 papers

NM_145059.3

p.V1005L

c.3013G>C

2 papers

NM_145059.3

p.V1005L

c.3013G>T

1 paper

NM_145059.3

p.S978_L979del2

c.2932_2936del6

1 paper

NM_145059.3

p.A1024V

c.3071C>T

1 paper

NM_145059.3

p.G1025G

c.3075C>T

1 paper

NM_145059.3

p.G1052D

c.3155G>A

1 paper

NM_145059.3

p.C1080Y

c.3239G>A

1 paper

NM_145059.3

p.C970insFs

c.2909_2910insT

1 paper

NM_145059.3

p.C970fs

c.2908_2909fs

2 papers

NM_145059.3

p.S962R

c.2886C>A