Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.K206N

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
16 papers
NM_004408.4
p.K206N
c.618G>T
Surrounding Variants
17 papers
NM_004408.4
p.K206N
c.618G>C
5 papers
NM_004408.4
p.K206E
c.616A>G
1 paper
NM_004408.4
p.D208_D215del0
c.624_644del21
2 papers
NM_004408.4
p.D208N
c.622G>A
1 paper
NM_004408.4
p.T205S
c.613A>T
1 paper
NM_004408.4
p.D208_L209insFs
c.624_625insA
1 paper
NM_004408.4
p.I204T
c.611T>C
1 paper
NM_004408.4
p.L209R
c.626T>G
1 paper
NM_004408.4
p.V203I
c.607G>A
1 paper
NM_004408.4
p.M210K
c.629T>A
4 papers
NM_004408.4
p.D211V
c.632A>T
1 paper
NM_004408.4
p.G202R
c.604G>A
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