Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4
Variant:p.E286delFs

CAVIN4

45 papers

RefSeq Summary

This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [pr...

Pfam Domains

PTRF_SDPRaa 27–264UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 4

HGNC Previous Symbol

MURC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018116.2
p.E286delFs
c.856delG
Surrounding Variants
1 paper
NM_001018116.2
p.E286fs
c.856_857fs
1 paper
NM_001018116.2
p.E286V
c.857A>T
1 paper
NM_001018116.2
p.G293D
c.878G>A
1 paper
NM_001018116.2
p.R275G
c.823A>G
2 papers
NM_001018116.2
p.R272H
c.815G>A
1 paper
NM_001018116.2
p.S300R
c.900C>A
1 paper
NM_001018116.2
p.S300S
c.900C>T
1 paper
NM_001018116.2
p.S307T
c.920G>C
1 paper
NM_001018116.2
p.S260C
c.779C>G
1 paper
NM_001018116.2
p.I259V
c.775A>G
1 paper
NM_001018116.2
p.E318*
c.952G>T
1 paper
NM_001018116.2
p.R323K
c.968G>A
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