Varaico: Literature-Extracted Genetic Variants

Gene:DNM1

DNM1

938 papers

RefSeq Summary

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in cl...

Pfam Domains

Dynamin_Naa 34–207UCSCDynamin family
Dynamin_Maa 215–502UCSCDynamin central region
PHaa 520–624UCSCPH domain
GEDaa 654–745UCSCDynamin GTPase effector domain

Gene Aliases

HGNC Name

dynamin 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 575 variants
39 papers
NM_004408.4
p.R237W
c.709C>T
25 papers
NM_004408.4
p.K44E
c.130A>G
24 papers
NM_004408.4
p.S45N
c.134G>A
21 papers
NM_004408.4
p.G359A
c.1076G>C
19 papers
NM_004408.4
p.A177P
c.529G>C
17 papers
NM_004408.4
p.K206N
c.618G>C
17 papers
NM_004408.4
p.R465W
c.1393C>T
16 papers
NM_004408.4
p.K206N
c.618G>T
14 papers
NM_004408.4
p.T65N
c.194C>A
14 papers
NM_004408.4
p.G397D
c.1190G>A
12 papers
NM_004408.4
p.T65A
c.193A>G
12 papers
NM_004408.4
p.R256L
c.767G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."