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

1 paper

NM_001367561.1

p.P240S

c.718C>T

Surrounding Variants

1 paper

NM_001367561.1

p.A237fs

c.709_710fs

1 paper

NM_001367561.1

p.F236insFs

c.708dupT

1 paper

NM_001367561.1

p.E234*

c.700G>T

1 paper

NM_001367561.1

p.N223D

c.667A>G

1 paper

NM_001367561.1

p.R213Q

c.638G>A

1 paper

NM_001367561.1

p.W191_L198del0

c.572_592del21

1 paper

NM_001367561.1

p.D197Y

c.589G>T

1 paper

NM_001367561.1

p.D197H

c.589G>C

1 paper

NM_001367561.1

p.D197N

c.589G>A

3 papers

NM_001367561.1

p.S190N

c.569G>A

1 paper

NM_001367561.1

p.S190G

c.568A>G

1 paper

NM_001367561.1

p.D185N

c.553G>A