Varaico: Literature-Extracted Genetic Variants

Gene:MYL5
Variant:p.I150T

MYL5

26 papers

RefSeq Summary

This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains...

Pfam Domains

EF-hand_7aa 32–92UCSCEF-hand domain pair

Gene Aliases

HGNC Name

myosin light chain 5

HGNC Previous Names

myosin, light polypeptide 5, regulatory; myosin, light chain 5, regulatory

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002477.2
p.I150T
c.449T>C
Surrounding Variants
1 paper
NM_002477.2
p.A153V
c.458C>T
1 paper
NM_002477.2
p.E140_V141Splc
c.421-9C>T
1 paper
NM_002477.2
p.E140_V141Splc
c.420+52G>A
1 paper
NM_002477.2
p.M130V
c.388A>G
3 papers
NM_002477.2
p.E123G
c.368A>G
1 paper
NM_002477.2
p.G118R
c.352G>A
1 paper
NM_002477.2
p.G118R
c.352G>C
3 papers
NM_002477.2
p.D115delFs
c.345delC
2 papers
NM_002477.2
p.D115fs
c.343_344fs
1 paper
NM_002477.2
p.D113insFs
c.337dupG
2 papers
NM_002477.2
p.G98S
c.292G>A
3 papers
NM_002477.2
p.F88S
c.263T>C
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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."