Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.H1119Q

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
3 papers
NM_032608.7
p.H1119Q
c.3357C>G
Surrounding Variants
3 papers
NM_032608.7
p.H1119Q
c.3357C>A
1 paper
NM_032608.7
p.L1118L
c.3352C>T
1 paper
NM_032608.7
p.T1099A
c.3295A>G
1 paper
NM_032608.7
p.D1097E
c.3291C>A
1 paper
NM_032608.7
p.D1097E
c.3291C>G
1 paper
NM_032608.7
p.R1075R
c.3223C>A
1 paper
NM_032608.7
p.A1073D
c.3218C>A
1 paper
NM_032608.7
p.S1071F
c.3212C>T
1 paper
NM_032608.7
p.Q1131*
c.3391C>T
1 paper
NM_032608.7
p.R1133W
c.3397C>T
1 paper
NM_032608.7
p.A1144V
c.3431C>T
1 paper
NM_032608.7
p.A1153D
c.3458C>A
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