Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4
Variant:p.R140W

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
3 papers
NM_001018116.2
p.R140W
c.418C>T
Surrounding Variants
1 paper
NM_001018116.2
p.L153_T154delFs
c.459_462del4
2 papers
NM_001018116.2
p.L153P
c.458T>C
1 paper
NM_001018116.2
p.Q157E
c.469C>G
1 paper
NM_001018116.2
p.R211Q
c.632G>A
1 paper
NM_001018116.2
p.P228L
c.683C>T
1 paper
NM_001018116.2
p.R231S
c.693A>C
1 paper
NM_001018116.2
p.R231S
c.693A>T
1 paper
NM_001018116.2
p.L248_R254del0
c.742_762del21
1 paper
NM_001018116.2
p.I259V
c.775A>G
1 paper
NM_001018116.2
p.S260C
c.779C>G
2 papers
NM_001018116.2
p.R272H
c.815G>A
1 paper
NM_001018116.2
p.R275G
c.823A>G
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