Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.R372H

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
2 papers
NM_001267052.2
p.R372H
c.1115G>A
Surrounding Variants
1 paper
NM_001267052.2
p.P370L
c.1109C>T
1 paper
NM_001267052.2
p.D369N
c.1105G>A
1 paper
NM_001267052.2
p.K377R
c.1130A>G
1 paper
NM_001267052.2
p.I383V
c.1147A>G
1 paper
NM_001267052.2
p.L396W
c.1187T>G
1 paper
NM_001267052.2
p.Q400L
c.1199A>T
1 paper
NM_001267052.2
p.V484Fs
c.1452delinsGCAFs
1 paper
NM_001267052.2
p.N326S
c.977A>G
1 paper
NM_001267052.2
p.H315Q
c.945T>A
1 paper
NM_001267052.2
p.H315Q
c.945T>G
1 paper
NM_001267052.2
p.A313G
c.938C>G
1 paper
NM_001267052.2
p.S288fs
c.862_863fs
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