Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.F372C

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
3 papers
NM_004408.4
p.F372C
c.1115T>G
Surrounding Variants
2 papers
NM_004408.4
p.F372S
c.1115T>C
1 paper
NM_004408.4
p.F372F
c.1116C>T
6 papers
NM_004408.4
p.E373K
c.1117G>A
1 paper
NM_004408.4
p.P371T
c.1111C>A
1 paper
NM_004408.4
p.F370C
c.1109T>G
2 papers
NM_004408.4
p.R369H
c.1106G>A
3 papers
NM_004408.4
p.V375G
c.1124T>G
3 papers
NM_004408.4
p.R369C
c.1105C>T
2 papers
NM_004408.4
p.K376R
c.1127A>G
1 paper
NM_004408.4
p.E368V
c.1103A>T
11 papers
NM_004408.4
p.E368K
c.1102G>A
4 papers
NM_004408.4
p.E368Q
c.1102G>C
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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."