Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B

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
1–12 of 85 variants
6 papers
NM_001267052.2
p.E781K
c.2341G>A
4 papers
NM_001267052.2
p.R752Q
c.2255G>A
2 papers
NM_001267052.2
p.D76N
c.226G>A
2 papers
NM_001267052.2
p.R372H
c.1115G>A
2 papers
NM_001267052.2
p.A542T
c.1624G>A
2 papers
NM_001267052.2
p.R713Q
c.2138G>A
2 papers
NM_173167.3
p.R805W
c.2413C>T
2 papers
NM_001267052.2
p.I850N
c.2549T>A
1 paper
NM_001267052.2
p.M1V
c.1A>G
1 paper
NM_001267052.2
p.M1K
c.2T>A
1 paper
NM_001267052.2
p.E5G
c.14A>G
1 paper
NM_001267052.2
p.E11D
c.33G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."