Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R256L

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
12 papers
NM_004408.4
p.R256L
c.767G>T
Surrounding Variants
1 paper
NM_004408.4
p.R256P
c.767G>C
2 papers
NM_004408.4
p.R256*
c.766C>T
1 paper
NM_004408.4
p.L260R
c.779T>G
1 paper
NM_004408.4
p.A251G
c.752C>G
1 paper
NM_004408.4
p.H262Y
c.784C>T
3 papers
NM_004408.4
p.P263L
c.788C>T
1 paper
NM_004408.4
p.D247A
c.740A>C
1 paper
NM_004408.4
p.Y265C
c.794A>G
6 papers
NM_004408.4
p.R266C
c.796C>T
3 papers
NM_004408.4
p.R266H
c.797G>A
1 paper
NM_004408.4
p.R266_H267Fs
c.797_801delinsGCTFs
1 paper
NM_004408.4
p.K245_K246ins9
c.733_737ins27
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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."