Varaico: Literature-Extracted Genetic Variants

Gene:SYNM
Variant:p.E245D

SYNM

124 papers

RefSeq Summary

The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multig...

Pfam Domains

Filamentaa 10–321UCSCIntermediate filament protein

Gene Aliases

HGNC Name

synemin

HGNC Previous Symbol

DMN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_145728.3
p.E245D
c.735G>C
Surrounding Variants
3 papers
NM_145728.3
p.E245D
c.735G>T
2 papers
NM_145728.3
p.E245del1
c.733_734delGAG
1 paper
NM_145728.3
p.L251P
c.752T>C
2 papers
NM_145728.3
p.R239H
c.716G>A
1 paper
NM_145728.3
p.R239C
c.715C>T
1 paper
NM_145728.3
p.A234_E235insFs
c.702_703insG
1 paper
NM_145728.3
p.A234fs
c.700_701fs
2 papers
NM_145728.3
p.A266V
c.797C>T
1 paper
NM_145728.3
p.E224K
c.670G>A
1 paper
NM_145728.3
p.Q270_R271Splc
c.810+4C>A
1 paper
NM_145728.3
p.Q217R
c.650A>G
4 papers
NM_145728.3
p.Q200*
c.598C>T
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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."