Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.H315Q

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.H315Q
c.945T>A
Surrounding Variants
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.N326S
c.977A>G
1 paper
NM_001267052.2
p.S288fs
c.862_863fs
1 paper
NM_001267052.2
p.V287insFs
c.860_861insT
1 paper
NM_001267052.2
p.D284G
c.851A>G
1 paper
NM_001267052.2
p.I278I
c.834C>T
1 paper
NM_001267052.2
p.G254V
c.761G>T
1 paper
NM_001267052.2
p.E235del1
c.703_704delGAG
1 paper
NM_001267052.2
p.L229F
c.685C>T
1 paper
NM_001267052.2
p.A214_H219delFs
c.640_656del17
1 paper
NM_001267052.2
p.D369N
c.1105G>A
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