Varaico: Literature-Extracted Genetic Variants

GIT1

17q11.2 (UCSC)OMIM GTEx

90 papers

Pfam Domains

ArfGapaa 1–120UCSCPutative GTPase activating protein for Arf

Ank_2aa 137–229UCSCAnkyrin repeats (3 copies)

GIT_SHDaa 264–292UCSCSpa2 homology domain (SHD) of GIT

GIT_SHDaa 328–356UCSCSpa2 homology domain (SHD) of GIT

GIT_CCaa 409–474UCSCGIT coiled-coil Rho guanine nucleotide exchange factor

GIT1_Caa 642–756UCSCG protein-coupled receptor kinase-interacting protein 1 C term

Gene Aliases

HGNC Name

GIT ArfGAP 1

HGNC Previous Names

G protein-coupled receptor kinase interactor 1; G protein-coupled receptor kinase interacting ArfGAP 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014030.4

p.K166fs

c.496_497fs

Surrounding Variants

1 paper

NM_014030.4

p.A174A

c.522T>C

1 paper

NM_014030.4

p.P193S

c.577C>T

1 paper

NM_014030.4

p.V198I

c.592G>A

1 paper

NM_014030.4

p.I204N

c.611T>A

1 paper

NM_014030.4

p.A207A

c.621C>G

1 paper

NM_014030.4

p.G211A

c.632G>C

1 paper

NM_014030.4

p.V220A

c.659T>C

1 paper

NM_014030.4

p.E221A

c.662A>C

1 paper

NM_014030.4

p.E221E

c.663G>A

1 paper

NM_014030.4

p.R237C

c.709C>T

1 paper

NM_014030.4

p.T129A

c.385A>G

1 paper

NM_014030.4

p.D125Y

c.373G>T