Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.K166Q

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.K166Q
c.496A>C
Surrounding Variants
1 paper
NM_004408.4
p.E167Q
c.499G>C
1 paper
NM_004408.4
p.L170F
c.508C>T
1 paper
NM_004408.4
p.I171N
c.512T>A
1 paper
NM_004408.4
p.L172Q
c.515T>A
2 papers
NM_004408.4
p.V174M
c.520G>A
1 paper
NM_004408.4
p.R157P
c.470G>C
2 papers
NM_004408.4
p.S175F
c.524C>T
1 paper
NM_004408.4
p.S175_A177delins
c.524_529delinsTCCCCC
1 paper
NM_004408.4
p.Q155_I156ins0
c.465_467dupGAT
1 paper
NM_004408.4
p.P176P
c.528C>T
1 paper
NM_004408.4
p.Q155insFs
c.464dupA
1 paper
NM_004408.4
p.A177T
c.529G>A
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