Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.V1379F

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.V1379F
c.4135G>T
Surrounding Variants
1 paper
NM_032608.7
p.W1382*
c.4145G>A
1 paper
NM_032608.7
p.W1382*
c.4146G>A
1 paper
NM_032608.7
p.W1382C
c.4146G>C
1 paper
NM_032608.7
p.W1382C
c.4146G>T
1 paper
NM_032608.7
p.Q1370*
c.4108C>T
1 paper
NM_032608.7
p.L1391_Q1392delFs
c.4171_4174del4
1 paper
NM_032608.7
p.S1390F
c.4169C>T
4 papers
NM_032608.7
p.R1363*
c.4087C>T
2 papers
NM_032608.7
p.R1362C
c.4084C>T
1 paper
NM_032608.7
p.I1399V
c.4195A>G
1 paper
NM_032608.7
p.Q1403K
c.4207C>A
1 paper
NM_032608.7
p.K1407*
c.4219A>T
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