Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.S913L

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.S913L
c.2738C>T
Surrounding Variants
1 paper
NM_032608.7
p.L919I
c.2755C>A
2 papers
NM_032608.7
p.R929Splc
c.2787-1G>T
2 papers
NM_032608.7
p.D945N
c.2833G>A
1 paper
NM_032608.7
p.R953Q
c.2858G>A
1 paper
NM_032608.7
p.R959W
c.2875C>T
2 papers
NM_032608.7
p.A960V
c.2879C>T
2 papers
NM_032608.7
p.R974H
c.2921G>A
1 paper
NM_032608.7
p.R982R
c.2944C>A
1 paper
NM_032608.7
p.T983N
c.2948C>A
1 paper
NM_032608.7
p.T983T
c.2949C>T
1 paper
NM_032608.7
p.G899Splc
c.2695+3A>G
1 paper
NM_032608.7
p.G890V
c.2669G>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."