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.K295fs

c.883_884fs

Surrounding Variants

1 paper

NM_001367561.1

p.E292K

c.874G>A

1 paper

NM_001367561.1

p.V290F

c.868G>T

1 paper

NM_001367561.1

p.E277K

c.829G>A

1 paper

NM_001367561.1

p.I276M

c.828T>G

3 papers

NM_001367561.1

p.K273Splc

c.819-1G>A

1 paper

NM_001367561.1

p.N299N

c.897C>T

1 paper

NM_001367561.1

p.E307*

c.919G>T

1 paper

NM_001367561.1

p.P318P

c.954A>C

5 papers

NM_001367561.1

p.S328*

c.983C>G

4 papers

NM_001367561.1

p.S328*

c.983C>A

1 paper

NM_001367561.1

p.S332fs

c.994_995fs

1 paper

NM_001367561.1

p.S337Y

c.1010C>A