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

1–12 of 99 variants

7 papers

NM_145059.3

p.K994Q

c.2980A>C

5 papers

NM_145059.3

p.S223P

c.667T>C

5 papers

NM_145059.3

p.R683C

c.2047C>T

4 papers

NM_145059.3

p.S331_L337delFs

c.993_1011del19

4 papers

NM_145059.3

p.E447_R448Splc

c.1341+1G>C

3 papers

NM_145059.3

p.P112L

c.335C>T

3 papers

NM_145059.3

p.L127M

c.379C>A

3 papers

NM_145059.3

p.D132H

c.394G>C

3 papers

NM_145059.3

p.E335fs

c.1003_1004fs

3 papers

NM_145059.3

p.V1005L

c.3013G>C

2 papers

NM_145059.3

p.V146M

c.436G>A

2 papers

NM_145059.3

p.G256R

c.766G>A