Varaico: Literature-Extracted Genetic Variants

DOCK5

142 papers

RefSeq Summary

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

Pfam Domains

SH3_1aa 14–55UCSCSH3 domain

DOCK_Naa 71–434UCSCDOCK N-terminus

DOCK-C2aa 439–636UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 646–1175UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1223–1354UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1411–1494UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 5

HGNC Alias Symbol

FLJ21034

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024940.8

p.R1069H

c.3206G>A

Surrounding Variants

3 papers

NM_024940.8

p.E1057G

c.3170A>G

2 papers

NM_024940.8

p.A1050A

c.3150A>G

1 paper

NM_024940.8

p.N1044K

c.3132C>A

1 paper

NM_024940.8

p.N1044K

c.3132C>G

1 paper

NM_024940.8

p.K1075Splc

c.3224+651G>A

1 paper

NM_024940.8

p.I1083I

c.3249C>T

1 paper

NM_024940.8

p.D1089N

c.3265G>A

1 paper

NM_024940.8

p.Y1092*

c.3276T>A

1 paper

NM_024940.8

p.Y1092*

c.3276T>G

1 paper

NM_024940.8

p.I1102I

c.3306C>T

1 paper

NM_024940.8

p.P1126P

c.3378C>T

1 paper

NM_024940.8

p.S1139G

c.3415A>G