Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.D18V

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
10 papers
NM_004408.4
p.D18V
c.53A>T
Surrounding Variants
1 paper
NM_004408.4
p.D18G
c.53A>G
1 paper
NM_004408.4
p.Q17H
c.51A>T
1 paper
NM_004408.4
p.F20Y
c.59T>A
3 papers
NM_004408.4
p.L16M
c.46C>A
1 paper
NM_004408.4
p.R15R
c.45G>C
1 paper
NM_004408.4
p.R15Q
c.44G>A
1 paper
NM_004408.4
p.R15L
c.44G>T
1 paper
NM_004408.4
p.S21S
c.63T>A
1 paper
NM_004408.4
p.N14S
c.41A>G
1 paper
NM_004408.4
p.V13D
c.38T>A
1 paper
NM_004408.4
p.L12P
c.35T>C
1 paper
NM_004408.4
p.L12M
c.34C>A
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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."