Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.I152L

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.I152L
c.454A>C
Surrounding Variants
1 paper
NM_004408.4
p.D151N
c.451G>A
1 paper
NM_004408.4
p.E153K
c.457G>A
2 papers
NM_004408.4
p.F154L
c.460T>C
1 paper
NM_004408.4
p.F154V
c.460T>G
1 paper
NM_004408.4
p.F154L
c.462C>A
1 paper
NM_004408.4
p.F154L
c.462C>G
1 paper
NM_004408.4
p.Q155insFs
c.464dupA
1 paper
NM_004408.4
p.P149S
c.445C>T
1 paper
NM_004408.4
p.Q155_I156ins0
c.465_467dupGAT
9 papers
NM_004408.4
p.Q148R
c.443A>G
1 paper
NM_004408.4
p.Q148L
c.443A>T
4 papers
NM_004408.4
p.Q148K
c.442C>A
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."