Varaico: Literature-Extracted Genetic Variants

DOCK6

230 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are compon...

Pfam Domains

DOCK_C-D_Naa 48–157UCSCDedicator of cytokinesis C/D, N terminal

DOCK-C2aa 544–723UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 897–1049UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1580–1739UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

DHR-2_Lobe_Caa 1915–2017UCSCDHR-2, Lobe C

Gene Aliases

HGNC Name

dedicator of cytokinesis 6

HGNC Alias Symbols

KIAA1395; ZIR1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 362 variants

9 papers

NM_020812.4

p.E1494*

c.4480G>T

7 papers

NM_020812.4

p.T455fs

c.1363_1364fs

6 papers

NM_020812.4

p.R466*

c.1396C>T

6 papers

NM_020812.4

p.K1980Splc

c.5939+2T>C

5 papers

NM_020812.4

p.R429fs

c.1285_1286fs

5 papers

NM_020812.4

p.L1064delFs

c.3190_3191delAG

5 papers

NM_020812.4

p.H1497_N1498Splc

c.4491+1G>A

4 papers

NM_020812.4

p.V45I

c.133G>A

4 papers

NM_020812.4

p.V263D

c.788T>A

4 papers

NM_020812.4

p.P423_R429insFs

c.1269_1285dup17

4 papers

NM_020812.4

p.Q434fs

c.1300_1301fs

4 papers

NM_020812.4

p.F840insFs

c.2520dupT