Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R237W

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
Selected Variant
39 papers
NM_004408.4
p.R237W
c.709C>T
Surrounding Variants
1 paper
NM_004408.4
p.R237Q
c.710G>A
1 paper
NM_004408.4
p.S238N
c.713G>A
5 papers
NM_004408.4
p.S238I
c.713G>T
1 paper
NM_004408.4
p.V235G
c.704T>G
1 paper
NM_004408.4
p.Q239insFs
c.716dupA
2 papers
NM_004408.4
p.Q239*
c.715C>T
1 paper
NM_004408.4
p.V234L
c.700G>C
1 paper
NM_004408.4
p.V234L
c.700G>T
2 papers
NM_004408.4
p.Y231*
c.693C>A
2 papers
NM_004408.4
p.Y231*
c.693C>G
1 paper
NM_004408.4
p.Y231C
c.692A>G
1 paper
NM_004408.4
p.Y231F
c.692A>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."