Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.R1195Q

MYO18B

266 papers

RefSeq Summary

The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer ...

Pfam Domains

Myosin_headaa 573–1217UCSCMyosin head (motor domain)

Gene Aliases

HGNC Name

myosin XVIIIB

HGNC Alias Symbol

BK125H2.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032608.7
p.R1195Q
c.3584G>A
Surrounding Variants
1 paper
NM_032608.7
p.R1195W
c.3583C>T
1 paper
NM_032608.7
p.H1197_F1198del2
c.3589_3593del6
1 paper
NM_032608.7
p.H1197_F1198del1
c.3590_3592delACT
1 paper
NM_032608.7
p.V1203I
c.3607G>A
2 papers
NM_032608.7
p.G1213G
c.3639G>A
1 paper
NM_032608.7
p.E1215*
c.3643G>T
1 paper
NM_032608.7
p.A1239_L1240del2
c.3715_3719del6
1 paper
NM_032608.7
p.R1254H
c.3761G>A
1 paper
NM_032608.7
p.S1166S
c.3498C>T
1 paper
NM_032608.7
p.A1165A
c.3495C>T
2 papers
NM_032608.7
p.A1165delFs
c.3495delC
1 paper
NM_032608.7
p.V1160M
c.3478G>A
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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."