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.A264P

c.790G>C

Surrounding Variants

1 paper

NM_014030.4

p.K262_A263insFs

c.786_787insT

1 paper

NM_014030.4

p.E259D

c.777A>T

1 paper

NM_014030.4

p.E259D

c.777A>C

1 paper

NM_001085454.2

p.Y293F

c.878A>T

1 paper

NM_014030.4

p.V295delFs

c.883delC

1 paper

NM_014030.4

p.A311A

c.933C>T

1 paper

NM_014030.4

p.P313S

c.937C>T

1 paper

NM_014030.4

p.R338*

c.1012C>T

1 paper

NM_014030.4

p.Q374K

c.1120C>A

1 paper

NM_014030.4

p.L377F

c.1129C>T

1 paper

NM_014030.4

p.D391Y

c.1171G>T

1 paper

NM_014030.4

p.A438V

c.1313C>T