Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.T214insFs

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
1 paper
NM_004408.4
p.T214insFs
c.641_642insC
Surrounding Variants
1 paper
NM_004408.4
p.G213C
c.637G>T
1 paper
NM_004408.4
p.E212delFs
c.635_636delAG
4 papers
NM_004408.4
p.D211V
c.632A>T
1 paper
NM_004408.4
p.R217fs
c.649_650fs
1 paper
NM_004408.4
p.R217H
c.650G>A
1 paper
NM_004408.4
p.M210K
c.629T>A
1 paper
NM_004408.4
p.D218insFs
c.652_653insG
1 paper
NM_004408.4
p.D218delFs
c.652delG
1 paper
NM_004408.4
p.L209R
c.626T>G
1 paper
NM_004408.4
p.D208_L209insFs
c.624_625insA
2 papers
NM_004408.4
p.D208N
c.622G>A
1 paper
NM_004408.4
p.D208_D215del0
c.624_644del21
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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."