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.G27R

c.79G>C

Surrounding Variants

1 paper

NM_014030.4

p.S25N

c.74G>A

1 paper

NM_014030.4

p.E33K

c.97G>A

1 paper

NM_014030.4

p.C34G

c.100T>G

1 paper

NM_014030.4

p.V37M

c.109G>A

1 paper

NM_014030.4

p.R43C

c.127C>T

1 paper

NM_014030.4

p.R43H

c.128G>A

1 paper

NM_014030.4

p.S46A

c.136T>G

1 paper

NM_014030.4

p.I47T

c.140T>C

1 paper

NM_014030.4

p.A55T

c.163G>A

1 paper

NM_014030.4

p.Q62_M63Splc

c.187-2A>T

1 paper

NM_014030.4

p.M63K

c.188T>A

1 paper

NM_014030.4

p.G71R

c.211G>C