Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.K44N

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.K44N
c.132G>C
Surrounding Variants
1 paper
NM_004408.4
p.K44N
c.132G>T
5 papers
NM_004408.4
p.S45R
c.133A>C
3 papers
NM_004408.4
p.K44R
c.131A>G
1 paper
NM_004408.4
p.S45C
c.133A>T
25 papers
NM_004408.4
p.K44E
c.130A>G
24 papers
NM_004408.4
p.S45N
c.134G>A
1 paper
NM_004408.4
p.S45_S46Fs
c.134_136delinsCCFs
5 papers
NM_004408.4
p.S45R
c.135C>A
5 papers
NM_004408.4
p.S45R
c.135C>G
3 papers
NM_004408.4
p.G43D
c.128G>A
11 papers
NM_004408.4
p.G43S
c.127G>A
1 paper
NM_004408.4
p.A42A
c.126C>G
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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."