Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.Y390D

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.Y390D
c.1168T>G
Surrounding Variants
1 paper
NM_004408.4
p.Y390insFs
c.1168_1169insC
1 paper
NM_004408.4
p.E387A
c.1160A>C
1 paper
NM_004408.4
p.R386G
c.1156A>G
1 paper
NM_004408.4
p.N394D
c.1180A>G
2 papers
NM_004408.4
p.R385Q
c.1154G>A
1 paper
NM_004408.4
p.R385_R386insFs
c.1155_1156insA
1 paper
NM_004408.4
p.R385*
c.1153C>T
1 paper
NM_004408.4
p.L384fs
c.1150_1151fs
3 papers
NM_004408.4
p.H396D
c.1186C>G
1 paper
NM_004408.4
p.L384F
c.1150C>T
1 paper
NM_004408.4
p.G397R
c.1189G>C
14 papers
NM_004408.4
p.G397D
c.1190G>A
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