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.K1460E

c.4378A>G

Surrounding Variants

1 paper

NM_001367561.1

p.K1460E

c.4378A>G

1 paper

NM_001367561.1

p.T1422K

c.4265C>A

3 papers

NM_001367561.1

p.R1415*

c.4243C>T

1 paper

NM_001367561.1

p.I1404insFs

c.4211_4212insA

1 paper

NM_001367561.1

p.A1399D

c.4196C>A

1 paper

NM_001367561.1

p.E1397_E1398delFs

c.4191_4194del4

1 paper

NM_001367561.1

p.L1396P

c.4187T>C

1 paper

NM_001367561.1

p.D1391H

c.4171G>C

1 paper

NM_001367561.1

p.K1373_G1374Splc

c.4120-15A>G

1 paper

NM_001367561.1

p.V1367L

c.4099G>T

1 paper

NM_001367561.1

p.R1358Q

c.4073G>A

1 paper

NM_001367561.1

p.K1337I

c.4010A>T