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

1–12 of 165 variants

4 papers

NM_024940.8

p.Q1023R

c.3068A>G

3 papers

NM_024940.8

p.E1057G

c.3170A>G

3 papers

NM_024940.8

p.K1285R

c.3854A>G

3 papers

NM_024940.8

p.A1569insFs

c.4706_4707insT

2 papers

NM_024940.8

p.R291Q

c.872G>A

2 papers

NM_024940.8

p.M800I

c.2400G>A

2 papers

NM_024940.8

p.M800I

c.2400G>C

2 papers

NM_024940.8

p.M800I

c.2400G>T

2 papers

NM_024940.8

p.R870*

c.2608C>T

2 papers

NM_024940.8

p.M987L

c.2959A>C

2 papers

NM_024940.8

p.M987L

c.2959A>T

2 papers

NM_024940.8

p.A1050A

c.3150A>G