Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.Q72_L73insFs

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.Q72_L73insFs
c.216_217insA
Surrounding Variants
1 paper
NM_004408.4
p.L71F
c.213G>C
1 paper
NM_004408.4
p.L71S
c.212T>C
3 papers
NM_004408.4
p.V74D
c.221T>A
1 paper
NM_004408.4
p.V70D
c.209T>A
1 paper
NM_004408.4
p.L69L
c.207G>A
1 paper
NM_004408.4
p.L69Fs
c.205_206delinsAACTFs
1 paper
NM_004408.4
p.T78R
c.233C>G
2 papers
NM_004408.4
p.R67C
c.199C>T
1 paper
NM_004408.4
p.R66R
c.198A>G
14 papers
NM_004408.4
p.T65N
c.194C>A
1 paper
NM_004408.4
p.T65I
c.194C>T
1 paper
NM_004408.4
p.T65P
c.193A>C
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