Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.Q1317R

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.Q1317R
c.3950A>G
Surrounding Variants
1 paper
NM_032608.7
p.E1299G
c.3896A>G
1 paper
NM_032608.7
p.E1298G
c.3893A>G
1 paper
NM_032608.7
p.E1298K
c.3892G>A
3 papers
NM_032608.7
p.V1297M
c.3889G>A
1 paper
NM_032608.7
p.G1323V
c.3968G>T
1 paper
NM_032608.7
p.S1326Y
c.3977C>A
1 paper
NM_032608.7
p.R1332Q
c.3995G>A
1 paper
NM_032608.7
p.S1337F
c.4010C>T
1 paper
NM_032608.7
p.A1345V
c.4034C>T
2 papers
NM_032608.7
p.R1362C
c.4084C>T
4 papers
NM_032608.7
p.R1363*
c.4087C>T
1 paper
NM_032608.7
p.Q1370*
c.4108C>T
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