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

1–12 of 193 variants

5 papers

NM_001367561.1

p.S328*

c.983C>G

5 papers

NM_001367561.1

p.R1237*

c.3709C>T

4 papers

NM_001367561.1

p.S328*

c.983C>A

4 papers

NM_001367561.1

p.D837delFs

c.2510delT

3 papers

NM_001367561.1

p.S190N

c.569G>A

3 papers

NM_001367561.1

p.K273Splc

c.819-1G>A

3 papers

NM_001367561.1

p.D837fs

c.2509_2510fs

3 papers

NM_001367561.1

p.G866Splc

c.2596+1G>A

3 papers

NM_001367561.1

p.R1415*

c.4243C>T

2 papers

NM_001367561.1

p.A8P

c.22G>C

2 papers

NM_001367561.1

p.R94Q

c.281G>A

2 papers

NM_001367561.1

p.K487R

c.1460A>G