Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.I38fs

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.I38fs
c.112_113fs
Surrounding Variants
1 paper
NM_032608.7
p.I38_L41delFs
c.112_121del10
2 papers
NM_032608.7
p.Q40*
c.118C>T
4 papers
NM_032608.7
p.V32A
c.95T>C
7 papers
NM_032608.7
p.G44E
c.131G>A
1 paper
NM_032608.7
p.A49T
c.145G>A
1 paper
NM_032608.7
p.P26P
c.78C>A
1 paper
NM_032608.7
p.S25S
c.75G>A
2 papers
NM_032608.7
p.S25L
c.74C>T
1 paper
NM_032608.7
p.V60V
c.180C>T
1 paper
NM_032608.7
p.E11*
c.31G>T
1 paper
NM_032608.7
p.L7F
c.19C>T
2 papers
NM_032608.7
p.I3M
c.9C>G
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