Varaico: Literature-Extracted Genetic Variants

Gene:DOCK9
Variant:p.F396L

DOCK9

101 papers

Pfam Domains

DOCK_C-D_Naa 46–156UCSCDedicator of cytokinesis C/D, N terminal
PHaa 175–281UCSCPH domain
DOCK-C2aa 636–827UCSCC2 domain in Dock180 and Zizimin proteins
TPR_DOCK9aa 853–1073UCSCDOCK9-like, TPR repeats
DHR-2_Lobe_Aaa 1589–1738UCSCDHR-2, Lobe A
DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 9

HGNC Alias Symbols

KIAA1058; ZIZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366683.2
p.F396L
c.1188C>G
Surrounding Variants
1 paper
NM_001366683.2
p.F396L
c.1188C>A
1 paper
NM_001366683.2
p.F397L
c.1189T>C
1 paper
NM_001366683.2
p.F396L
c.1186T>C
1 paper
NM_001366683.2
p.F397L
c.1191T>G
1 paper
NM_001366683.2
p.F397L
c.1191T>A
1 paper
NM_001366683.2
p.D414N
c.1240G>A
1 paper
NM_001366683.2
p.V424insFs
c.1271_1272insA
1 paper
NM_001366683.2
p.A429T
c.1285G>A
1 paper
NM_001366683.2
p.Q379*
c.1135C>T
1 paper
NM_001366683.2
p.V369L
c.1105G>C
1 paper
NM_001366683.2
p.P468R
c.1403C>G
1 paper
NM_001366683.2
p.P470S
c.1408C>T
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