Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.R2240S

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.R2240S
c.6720G>T
Surrounding Variants
1 paper
NM_032608.7
p.S2239S
c.6717G>T
1 paper
NM_032608.7
p.T2233A
c.6697A>G
1 paper
NM_032608.7
p.A2248V
c.6743C>T
1 paper
NM_032608.7
p.V2254M
c.6760G>A
1 paper
NM_032608.7
p.E2255D
c.6765A>C
1 paper
NM_032608.7
p.E2255D
c.6765A>T
5 papers
NM_032608.7
p.G2256delFs
c.6768delG
2 papers
NM_032608.7
p.R2258W
c.6772C>T
2 papers
NM_032608.7
p.R2220fs
c.6658_6659fs
6 papers
NM_032608.7
p.R2220_A2224delFs
c.6660_6670del11
1 paper
NM_032608.7
p.K2216T
c.6647A>C
1 paper
NM_032608.7
p.G2267A
c.6800G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."