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.P515L

c.1544C>T

Surrounding Variants

1 paper

NM_001367561.1

p.V531M

c.1591G>A

1 paper

NM_001367561.1

p.R540K

c.1619G>A

1 paper

NM_001367561.1

p.P556R

c.1667C>G

1 paper

NM_001367561.1

p.P504_I505del1

c.1511_1513delTAG

1 paper

NM_001367561.1

p.L502I

c.1504C>A

1 paper

NM_001367561.1

p.R501L

c.1502G>T

1 paper

NM_001367561.1

p.R501Q

c.1502G>A

1 paper

NM_001367561.1

p.A490T

c.1468G>A

2 papers

NM_001367561.1

p.K487R

c.1460A>G

1 paper

NM_001367561.1

p.Q475_E476Splc

c.1425+1G>T

1 paper

NM_001367561.1

p.F473fs

c.1417_1418fs

1 paper

NM_001367561.1

p.T460T

c.1380G>T