Varaico: Literature-Extracted Genetic Variants

FDPS

97 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, far...

Pfam Domains

polyprenyl_syntaa 1–203UCSCPolyprenyl synthetase

polyprenyl_syntaa 108–374UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

farnesyl diphosphate synthase

HGNC Alias Name

farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002004.4

p.Q329P

c.986A>C

Surrounding Variants

3 papers

NM_002004.4

p.C333Y

c.998G>A

1 paper

NM_002004.4

p.S334R

c.1000A>C

1 paper

NM_002004.4

p.S334R

c.1002C>A

1 paper

NM_002004.4

p.S334R

c.1002C>G

1 paper

NM_002004.4

p.K323T

c.968A>C

2 papers

NM_002004.4

p.K323R

c.968A>G

1 paper

NM_002004.4

p.T321T

c.963C>T

1 paper

NM_002004.4

p.D317A

c.950A>C

1 paper

NM_002004.4

p.F315fs

c.943_944fs

1 paper

NM_002004.4

p.D313A

c.938A>C

1 paper

NM_002004.4

p.P346A

c.1036C>G

1 paper

NM_002004.4

p.Q308_D309Splc

c.925-1G>A