Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.P144L

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
6 papers
NM_004408.4
p.P144L
c.431C>T
Surrounding Variants
6 papers
NM_004408.4
p.T141A
c.421A>G
4 papers
NM_004408.4
p.Q148K
c.442C>A
9 papers
NM_004408.4
p.Q148R
c.443A>G
1 paper
NM_004408.4
p.Q148L
c.443A>T
1 paper
NM_004408.4
p.P149S
c.445C>T
2 papers
NM_004408.4
p.G139E
c.416G>A
5 papers
NM_004408.4
p.G139V
c.416G>T
4 papers
NM_004408.4
p.G139R
c.415G>A
4 papers
NM_004408.4
p.G139R
c.415G>C
1 paper
NM_004408.4
p.P138P
c.414C>G
1 paper
NM_004408.4
p.P138S
c.412C>T
4 papers
NM_004408.4
p.G139_T141del0
c.415_423del9
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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."