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.P804S

c.2410C>T

Surrounding Variants

1 paper

NM_001367561.1

p.L798I

c.2392C>A

1 paper

NM_001367561.1

p.R787*

c.2359C>T

1 paper

NM_001367561.1

p.S772R

c.2316C>G

1 paper

NM_001367561.1

p.S772R

c.2316C>A

1 paper

NM_001367561.1

p.S772R

c.2314A>C

1 paper

NM_001367561.1

p.R755*

c.2263C>T

1 paper

NM_001367561.1

p.G718S

c.2152G>A

1 paper

NM_001367561.1

p.E704_V705Splc

c.2113-2A>G

1 paper

NM_001367561.1

p.I824T

c.2471T>C

2 papers

NM_001367561.1

p.R827*

c.2479C>T

3 papers

NM_001367561.1

p.D837fs

c.2509_2510fs

4 papers

NM_001367561.1

p.D837delFs

c.2510delT