Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.I91V

TMEM43

366 papers

RefSeq Summary

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiom...

Pfam Domains

TMEM43aa 121–373UCSCTransmembrane protein 43

Gene Aliases

HGNC Name

transmembrane protein 43

HGNC Previous Symbol

ARVD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_024334.3
p.I91V
c.271A>G
Surrounding Variants
1 paper
NM_024334.3
p.H90Y
c.268C>T
1 paper
NM_024334.3
p.I92N
c.275T>A
10 papers
NM_024334.3
p.V89M
c.265G>A
1 paper
NM_024334.3
p.A94T
c.280G>A
1 paper
NM_024334.3
p.R87fs
c.259_260fs
1 paper
NM_024334.3
p.G86E
c.257G>A
1 paper
NM_024334.3
p.R96G
c.286C>G
1 paper
NM_024334.3
p.G86R
c.256G>A
10 papers
NM_024334.3
p.E85K
c.253G>A
1 paper
NM_024334.3
p.E85fs
c.253_254fs
2 papers
NM_024334.3
p.E85_G86delFs
c.253_256del4
1 paper
NM_024334.3
p.P82S
c.244C>T
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