Varaico: Literature-Extracted Genetic Variants

DOCK1

126 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded pro...

Pfam Domains

SH3_1aa 15–62UCSCSH3 domain

DOCK_Naa 72–416UCSCDOCK N-terminus

DOCK-C2aa 421–618UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 628–1152UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1199–1330UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1387–1469UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 1

HGNC Alias Symbols

DOCK180; ced5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001290223.2

p.V81F

c.241G>T

Surrounding Variants

1 paper

NM_001290223.2

p.P87L

c.260C>T

1 paper

NM_001290223.2

p.T94M

c.281C>T

1 paper

NM_001290223.2

p.T95K

c.284C>A

1 paper

NM_001290223.2

p.H120N

c.358C>A

2 papers

NM_001290223.2

p.K147R

c.440A>G

1 paper

NM_001290223.2

p.A151T

c.451G>A

1 paper

NM_001290223.2

p.K68*

c.202A>T

1 paper

NM_001290223.2

p.L67L

c.201T>A

1 paper

NM_001290223.2

p.L164Q

c.491T>A

1 paper

NM_001290223.2

p.G171E

c.512G>A

1 paper

NM_001290223.2

p.I173_L174insFs

c.519_520insT

1 paper

NM_001290223.2

p.T181M

c.542C>T