Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.N3S

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.N3S
c.8A>G
Surrounding Variants
1 paper
NM_004408.4
p.N3K
c.9C>G
1 paper
NM_004408.4
p.N3insFs
c.7dupA
1 paper
NM_004408.4
p.G2A
c.5G>C
1 paper
NM_004408.4
p.G2C
c.4G>T
1 paper
NM_004408.4
p.G5S
c.13G>A
1 paper
NM_004408.4
p.M1_G2insFs
c.3_4insT
2 papers
NM_004408.4
p.M1T
c.2T>C
2 papers
NM_004408.4
p.M1insFs
c.2_3insT
1 paper
NM_004408.4
p.M1L
c.1A>T
1 paper
NM_004408.4
p.M6delFs
c.17delT
1 paper
NM_004408.4
p.M1delFs
c.1delA
1 paper
NM_004408.4
p.M1del1
c.1_2delATG
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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."