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

2 papers

NM_014030.4

p.Y554F

c.1661A>T

Surrounding Variants

1 paper

NM_014030.4

p.R555Q

c.1664G>A

1 paper

NM_014030.4

p.A543T

c.1627G>A

1 paper

NM_014030.4

p.D542insFs

c.1625_1626ins4

1 paper

NM_014030.4

p.G521V

c.1562G>T

1 paper

NM_014030.4

p.K558R

c.1673A>G

1 paper

NM_014030.4

p.L516L

c.1548G>C

1 paper

NM_014030.4

p.E511D

c.1533A>T

1 paper

NM_014030.4

p.E511D

c.1533A>C

1 paper

NM_014030.4

p.F567L

c.1699T>C

1 paper

NM_014030.4

p.S592N

c.1775G>A

1 paper

NM_014030.4

p.R459L

c.1376G>T

1 paper

NM_014030.4

p.A438V

c.1313C>T