Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.D802H

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.D802H
c.2404G>C
Surrounding Variants
2 papers
NM_173167.3
p.R805W
c.2413C>T
1 paper
NM_001267052.2
p.G800R
c.2398G>C
1 paper
NM_001267052.2
p.E794K
c.2380G>A
1 paper
NM_001267052.2
p.K834N
c.2502G>C
1 paper
NM_001267052.2
p.K834N
c.2502G>T
1 paper
NM_001267052.2
p.L788L
c.2364C>A
1 paper
NM_173167.3
p.C786Y
c.2357G>A
6 papers
NM_001267052.2
p.E781K
c.2341G>A
1 paper
NM_001267052.2
p.A778V
c.2333C>T
1 paper
NM_001267052.2
p.R776Q
c.2327G>A
1 paper
NM_001267052.2
p.R776W
c.2326C>T
1 paper
NM_001267052.2
p.D773H
c.2317G>C
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