Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4
Variant:p.R332R

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.R332R
c.996G>A
Surrounding Variants
1 paper
NM_001018116.2
p.R332S
c.996G>C
1 paper
NM_001018116.2
p.R332S
c.996G>T
1 paper
NM_001018116.2
p.R332fs
c.994_995fs
2 papers
NM_001018116.2
p.E330E
c.990A>G
1 paper
NM_001018116.2
p.E338K
c.1012G>A
2 papers
NM_001018116.2
p.P324L
c.971C>T
1 paper
NM_001018116.2
p.R323K
c.968G>A
1 paper
NM_001018116.2
p.K345I
c.1034A>T
1 paper
NM_001018116.2
p.E318*
c.952G>T
1 paper
NM_001018116.2
p.E354K
c.1060G>A
1 paper
NM_001018116.2
p.L356V
c.1066C>G
1 paper
NM_001018116.2
p.S307T
c.920G>C
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