Varaico: Literature-Extracted Genetic Variants

Gene:UNC45B
Variant:p.L229F

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.L229F
c.685C>T
Surrounding Variants
1 paper
NM_001267052.2
p.E235del1
c.703_704delGAG
1 paper
NM_001267052.2
p.A214_H219delFs
c.640_656del17
1 paper
NM_001267052.2
p.G254V
c.761G>T
1 paper
NM_001267052.2
p.C207F
c.620G>T
1 paper
NM_001267052.2
p.R201W
c.601C>T
1 paper
NM_001267052.2
p.K191R
c.572A>G
1 paper
NM_001267052.2
p.A158P
c.472G>C
1 paper
NM_001267052.2
p.R155W
c.463C>T
1 paper
NM_001267052.2
p.Q131H
c.393G>C
1 paper
NM_001267052.2
p.Q131H
c.393G>T
1 paper
NM_001267052.2
p.R129Q
c.386G>A
1 paper
NM_001267052.2
p.I278I
c.834C>T
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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."