Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4
Variant:p.N128S

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.N128S
c.383A>G
Surrounding Variants
3 papers
NM_001018116.2
p.N128K
c.384C>A
4 papers
NM_001018116.2
p.N128K
c.384C>G
1 paper
NM_001018116.2
p.V132E
c.395T>A
1 paper
NM_001018116.2
p.H113L
c.338A>T
1 paper
NM_001018116.2
p.R106W
c.316C>T
1 paper
NM_001018116.2
p.K104N
c.312A>C
1 paper
NM_001018116.2
p.K104N
c.312A>T
1 paper
NM_001018116.2
p.V96L
c.286G>C
1 paper
NM_001018116.2
p.R94Q
c.281G>A
1 paper
NM_001018116.2
p.N81K
c.243T>A
1 paper
NM_001018116.2
p.N81K
c.243T>G
1 paper
NM_001018116.2
p.H79L
c.236A>T
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