Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.R752Splc

UNC45B

82 papers

RefSeq Summary

This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat...

Pfam Domains

UNC45-centralaa 297–514UCSCMyosin-binding striated muscle assembly central

Gene Aliases

HGNC Name

unc-45 myosin chaperone B

HGNC Previous Symbol

CMYA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001267052.2
p.R752Splc
c.2255+5G>C
Surrounding Variants
5 papers
NM_173167.3
p.R754Q
c.2261G>A
NM_001267052.2
p.R752Q
c.2255G>A
2 papers
NM_001267052.2
p.R713Q
c.2138G>A
1 paper
NM_001267052.2
p.P705L
c.2114C>T
1 paper
NM_001267052.2
p.S703_P705del3
c.2107_2114del9
1 paper
NM_001267052.2
p.P662Q
c.1985C>A
1 paper
NM_001267052.2
p.D773H
c.2317G>C
1 paper
NM_001267052.2
p.R776W
c.2326C>T
1 paper
NM_001267052.2
p.R776Q
c.2327G>A
1 paper
NM_001267052.2
p.A778V
c.2333C>T
6 papers
NM_001267052.2
p.E781K
c.2341G>A
1 paper
NM_173167.3
p.C786Y
c.2357G>A
1 paper
NM_001267052.2
p.L788L
c.2364C>A
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