Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.D546V

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.D546V
c.1637A>T
Surrounding Variants
2 papers
NM_001267052.2
p.A542T
c.1624G>A
1 paper
NM_001267052.2
p.M558L
c.1672A>T
1 paper
NM_001267052.2
p.K516Splc
c.1547+6G>T
1 paper
NM_001267052.2
p.R515H
c.1544G>A
1 paper
NM_001267052.2
p.C514R
c.1540T>C
1 paper
NM_001267052.2
p.Q513H
c.1539G>C
1 paper
NM_001267052.2
p.Q513H
c.1539G>T
1 paper
NM_001267052.2
p.D496H
c.1486G>C
1 paper
NM_001267052.2
p.T575N
c.1724C>A
1 paper
NM_001267052.2
p.V484Fs
c.1452delinsGCAFs
1 paper
NM_001267052.2
p.Q400L
c.1199A>T
1 paper
NM_001267052.2
p.L396W
c.1187T>G
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