Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R465W

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
17 papers
NM_004408.4
p.R465W
c.1393C>T
Surrounding Variants
2 papers
NM_004408.4
p.R465Q
c.1394G>A
1 paper
NM_004408.4
p.T462A
c.1384A>G
1 paper
NM_004408.4
p.E468*
c.1402G>T
1 paper
NM_004408.4
p.R458H
c.1373G>A
1 paper
NM_004408.4
p.E457E
c.1371G>A
1 paper
NM_004408.4
p.E473K
c.1417G>A
1 paper
NM_004408.4
p.Q474*
c.1420C>T
1 paper
NM_004408.4
p.R453P
c.1358G>C
1 paper
NM_004408.4
p.R453W
c.1357C>T
1 paper
NM_004408.4
p.R451Q
c.1352G>A
1 paper
NM_004408.4
p.Y449*
c.1347C>A
1 paper
NM_004408.4
p.Y449*
c.1347C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."