Varaico: Literature-Extracted Genetic Variants

RABGGTA

14q12 (UCSC)OMIM GTEx

38 papers

Pfam Domains

PPTAaa 45–76UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 89–120UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 125–156UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 160–191UCSCProtein prenyltransferase alpha subunit repeat

PPTAaa 208–239UCSCProtein prenyltransferase alpha subunit repeat

RabGGT_insertaa 245–346UCSCRab geranylgeranyl transferase alpha-subunit, insert domain

Gene Aliases

HGNC Name

Rab geranylgeranyltransferase subunit alpha

HGNC Alias Symbol

PTAR3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

3 papers

NM_182836.3

p.T420A

c.1258A>G

2 papers

NM_182836.3

p.N310S

c.929A>G

2 papers

NM_182836.3

p.G340S

c.1018G>A

2 papers

NM_182836.3

p.V565I

c.1693G>A

1 paper

NM_182836.3

p.H2Y

c.4C>T

1 paper

NM_182836.3

p.T9fs

c.25_26fs

1 paper

NM_182836.3

p.K17E

c.49A>G

1 paper

NM_182836.3

p.R18W

c.52A>T

1 paper

NM_182836.3

p.Q40*

c.118C>T

1 paper

NM_182836.3

p.S47C

c.140C>G

1 paper

NM_182836.3

p.E97V

c.290A>T

1 paper

NM_182836.3

p.R101W

c.301C>T