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.L1119Q

c.3356T>A

Surrounding Variants

2 papers

NM_001367561.1

p.L1117*

c.3350T>A

NM_033407.4

p.L1086*

c.3257T>A

1 paper

NM_001367561.1

p.S1102F

c.3305C>T

1 paper

NM_001367561.1

p.G1088V

c.3263G>T

1 paper

NM_001367561.1

p.N1071D

c.3211A>G

1 paper

NM_001367561.1

p.V1067F

c.3199G>T

1 paper

NM_001367561.1

p.D1063_E1065del3

c.3187_3194del9

1 paper

NM_001367561.1

p.D1055G

c.3164A>G

1 paper

NM_001367561.1

p.T1051M

c.3152C>T

1 paper

NM_001367561.1

p.E1039K

c.3115G>A

1 paper

NM_001367561.1

p.R1036L

c.3107G>T

1 paper

NM_001367561.1

p.H1021Y

c.3061C>T

1 paper

NM_001367561.1

p.S1177S

c.3531C>T