Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.L29H

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
2 papers
NM_004408.4
p.L29H
c.86T>A
Surrounding Variants
1 paper
NM_004408.4
p.D30Y
c.88G>T
1 paper
NM_004408.4
p.D28A
c.83A>C
4 papers
NM_004408.4
p.Q33*
c.97C>T
1 paper
NM_004408.4
p.I34N
c.101T>A
1 paper
NM_004408.4
p.I34I
c.102C>T
1 paper
NM_004408.4
p.A35D
c.104C>A
1 paper
NM_004408.4
p.S21S
c.63T>A
5 papers
NM_004408.4
p.G38S
c.112G>A
1 paper
NM_004408.4
p.G38_Q40delins
c.112_120delinsAGCGGCCAC
1 paper
NM_004408.4
p.F20Y
c.59T>A
1 paper
NM_004408.4
p.G39S
c.115G>A
1 paper
NM_004408.4
p.G39D
c.116G>A
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