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

Selected Variant

1 paper

NM_057169.5

p.K414E

c.1240A>G

Surrounding Variants

1 paper

NM_057169.5

p.R412W

c.1234C>T

1 paper

NM_057169.5

p.V395M

c.1183G>A

9 papers

NM_057169.5

p.N387S

c.1160A>G

1 paper

NM_057169.5

p.I376V

c.1126A>G

1 paper

NM_057169.5

p.G423A

c.1268G>C

1 paper

NM_057169.5

p.N435S

c.1304A>G

1 paper

NM_057169.5

p.I444V

c.1330A>G

1 paper

NM_057169.5

p.I444R

c.1331T>G

1 paper

NM_057169.5

p.N474D

c.1420A>G

1 paper

NM_057169.5

p.Q522K

c.1564C>A

1 paper

NM_057169.5

p.Q542*

c.1624C>T

1 paper

NM_057169.5

p.G364D

c.1091G>A