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

3 papers

NM_024940.8

p.K1285R

c.3854A>G

Surrounding Variants

1 paper

NM_024940.8

p.Q1302K

c.3904C>A

1 paper

NM_024940.8

p.L1271L

c.3811C>T

1 paper

NM_024940.8

p.L1264F

c.3790C>T

1 paper

NM_024940.8

p.K1312_M1313Splc

c.3937-34C>G

1 paper

NM_024940.8

p.S1321I

c.3962G>T

1 paper

NM_024940.8

p.E1329K

c.3985G>A

2 papers

NM_024940.8

p.Y1240C

c.3719A>G

1 paper

NM_024940.8

p.D1206D

c.3618C>T

1 paper

NM_024940.8

p.A1194T

c.3580G>A

1 paper

NM_024940.8

p.H1183Q

c.3549C>A

1 paper

NM_024940.8

p.H1183Q

c.3549C>G

1 paper

NM_024940.8

p.A1346D

c.4037C>A