Varaico: Literature-Extracted Genetic Variants

GIT2

99 papers

RefSeq Summary

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT pro...

Pfam Domains

ArfGapaa 1–120UCSCPutative GTPase activating protein for Arf

Ank_2aa 135–229UCSCAnkyrin repeats (3 copies)

Ankaa 166–198UCSCAnkyrin repeat

GIT_SHDaa 266–294UCSCSpa2 homology domain (SHD) of GIT

GIT_SHDaa 330–358UCSCSpa2 homology domain (SHD) of GIT

GIT_CCaa 414–478UCSCGIT coiled-coil Rho guanine nucleotide exchange factor

Gene Aliases

HGNC Name

GIT ArfGAP 2

HGNC Alias Symbols

KIAA0148; PKL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

9 papers

NM_057169.5

p.N387S

c.1160A>G

4 papers

NM_057169.5

p.G16_P17insFs

c.48_49insC

2 papers

NM_057169.5

p.P55L

c.164C>T

2 papers

NM_057169.5

p.A552V

c.1655C>T

1 paper

NM_057169.5

p.R4R

c.12G>C

1 paper

NM_057169.5

p.R4R

c.12G>A

1 paper

NM_057169.5

p.L5L

c.15C>A

1 paper

NM_057169.5

p.P19fs

c.55_56fs

1 paper

NM_057169.5

p.T28M

c.83C>T

1 paper

NM_057169.5

p.E33K

c.97G>A

1 paper

NM_057169.5

p.C34G

c.100T>G

1 paper

NM_057169.5

p.S46A

c.136T>G