Varaico: Literature-Extracted Genetic Variants

DOCK7

165 papers

RefSeq Summary

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and ...

Pfam Domains

DOCK_C-D_Naa 52–161UCSCDedicator of cytokinesis C/D, N terminal

DOCK-C2aa 557–736UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 954–1126UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1671–1830UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1896–1972UCSCDHR-2, Lobe B

DHR-2_Lobe_Caa 2006–2108UCSCDHR-2, Lobe C

Gene Aliases

HGNC Name

dedicator of cytokinesis 7

HGNC Alias Symbols

KIAA1771; ZIR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001367561.1

p.R94Q

c.281G>A

Surrounding Variants

1 paper

NM_001367561.1

p.R94W

c.280C>T

1 paper

NM_001367561.1

p.G74E

c.221G>A

1 paper

NM_001367561.1

p.L60_S73del0

c.179_217del39

1 paper

NM_001367561.1

p.S73A

c.217T>G

1 paper

NM_001367561.1

p.D62V

c.185A>T

1 paper

NM_001367561.1

p.H112Y

c.334C>T

1 paper

NM_001367561.1

p.I117T

c.350T>C

1 paper

NM_001367561.1

p.R118G

c.352A>G

1 paper

NM_001367561.1

p.K151E

c.451A>G

1 paper

NM_001367561.1

p.G152fs

c.454_455fs

1 paper

NM_001367561.1

p.K151insFs

c.453dupA

1 paper

NM_001367561.1

p.L153F

c.459G>T