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

1–12 of 107 variants

2 papers

NM_001290223.2

p.K147R

c.440A>G

2 papers

NM_001290223.2

p.K1269_W1270Splc

c.3808-1G>C

2 papers

NM_001290223.2

p.I1494I

c.4482T>C

2 papers

NM_001290223.2

p.P1613L

c.4838C>T

2 papers

NM_001290223.2

p.P1756L

c.5267C>T

2 papers

NM_001290223.2

p.S1804L

c.5411C>T

2 papers

NM_001290223.2

p.A1878T

c.5632G>A

1 paper

NM_001290223.2

p.E10del1

c.28_29delGAG

1 paper

NM_001290223.2

p.G14V

c.41G>T

1 paper

NM_001290223.2

p.A16Splc

c.46+13708A>G

1 paper

NM_001290223.2

p.L30F

c.90A>C

1 paper

NM_001290223.2

p.L30F

c.90A>T