Varaico: Literature-Extracted Genetic Variants

Gene:DOCK5
Variant:p.M987L

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
2 papers
NM_024940.8
p.M987L
c.2959A>C
Surrounding Variants
2 papers
NM_024940.8
p.M987L
c.2959A>T
1 paper
NM_024940.8
p.I983_D984Splc
c.2950-4G>A
1 paper
NM_024940.8
p.L996L
c.2988G>A
1 paper
NM_024940.8
p.D1005G
c.3014A>G
4 papers
NM_024940.8
p.Q1023R
c.3068A>G
1 paper
NM_024940.8
p.N1044K
c.3132C>A
1 paper
NM_024940.8
p.N1044K
c.3132C>G
2 papers
NM_024940.8
p.A1050A
c.3150A>G
3 papers
NM_024940.8
p.E1057G
c.3170A>G
1 paper
NM_024940.8
p.R1069H
c.3206G>A
1 paper
NM_024940.8
p.S974R
c.2920A>C
1 paper
NM_024940.8
p.C956F
c.2867G>T
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