Varaico: Literature-Extracted Genetic Variants

FGGY

84 papers

RefSeq Summary

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymor...

Pfam Domains

FGGY_Naa 11–267UCSCFGGY family of carbohydrate kinases, N-terminal domain

FGGY_Caa 289–497UCSCFGGY family of carbohydrate kinases, C-terminal domain

Gene Aliases

HGNC Name

FGGY carbohydrate kinase domain containing

HGNC Alias Symbol

FLJ10986

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018291.5

p.W114*

c.341G>A

Surrounding Variants

1 paper

NM_018291.5

p.W114*

c.342G>A

1 paper

NM_018291.5

p.H117N

c.349C>A

1 paper

NM_018291.5

p.K130R

c.389A>G

2 papers

NM_018291.5

p.V137fs

c.409_410fs

3 papers

NM_018291.5

p.V140insFs

c.418dupG

1 paper

NM_018291.5

p.G138fs

c.412_413fs

1 paper

NM_018291.5

p.V140fs

c.418_419fs

1 paper

NM_018291.5

p.Q146H

c.438G>C

1 paper

NM_018291.5

p.Q146H

c.438G>T