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.V368A

c.1103T>C

Surrounding Variants

1 paper

NM_145059.3

p.S365N

c.1094G>A

1 paper

NM_145059.3

p.G381_L384del4

c.1141_1151del12

1 paper

NM_145059.3

p.G391fs

c.1171_1172fs

1 paper

NM_145059.3

p.I393fs

c.1177_1178fs

4 papers

NM_145059.3

p.E447_R448Splc

c.1341+1G>C

1 paper

NM_145059.3

p.E447_R448Splc

c.1341+1G>T

1 paper

NM_145059.3

p.S339C

c.1015A>T

3 papers

NM_145059.3

p.E335fs

c.1003_1004fs

1 paper

NM_145059.3

p.A333D

c.998C>A

4 papers

NM_145059.3

p.S331_L337delFs

c.993_1011del19

1 paper

NM_145059.3

p.S327fs

c.979_980fs

1 paper

NM_145059.3

p.Y326_S327delFs

c.978_979delCA