Varaico: Literature-Extracted Genetic Variants

FNTA

23 papers

RefSeq Summary

Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and ...

Pfam Domains

PPTAaa 113–144UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 148–179UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 182–213UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 216–247UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 256–287UCSCProtein prenyltransferase alpha subunit repeat

Gene Aliases

HGNC Name

farnesyltransferase, CAAX box, subunit alpha

HGNC Alias Symbols

FPTA; PGGT1A; PTAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002027.3

p.H205Q

c.615T>G

Surrounding Variants

1 paper

NM_002027.3

p.H205Q

c.615T>A

1 paper

NM_002027.3

p.Q184R

c.551A>G

1 paper

NM_002027.3

p.Q184E

c.550C>G

1 paper

NM_002027.3

p.Y222H

c.664T>C

1 paper

NM_002027.3

p.N234S

c.701A>G

1 paper

NM_002027.3

p.R109H

c.326G>A