Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001267052.2
p.M1V
c.1A>G
1 paper
NM_001267052.2
p.E5G
c.14A>G
1 paper
NM_001267052.2
p.E11D
c.33G>C
1 paper
NM_001267052.2
p.E11D
c.33G>T
1 paper
NM_001267052.2
p.R15Q
c.44G>A
1 paper
NM_001267052.2
p.Q31Q
c.93G>A
1 paper
NM_001267052.2
p.R49W
c.145C>T
1 paper
NM_001267052.2
p.R49P
c.146G>C
1 paper
NM_001267052.2
p.Q61*
c.181C>T
1 paper
NM_001267052.2
p.A69A
c.207C>T
1 paper
NM_001267052.2
p.D71E
c.213C>A
1 paper
NM_001267052.2
p.D71E
c.213C>G
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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."