Varaico: Literature-Extracted Genetic Variants

Gene:MYL5
Variant:p.G63Splc

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.G63Splc
c.188-1G>A
Surrounding Variants
1 paper
NM_002477.2
p.V67A
c.200T>C
1 paper
NM_002477.2
p.G81E
c.242G>A
2 papers
NM_002477.2
p.T86I
c.257C>T
3 papers
NM_002477.2
p.F88S
c.263T>C
2 papers
NM_002477.2
p.G98S
c.292G>A
1 paper
NM_002477.2
p.D113insFs
c.337dupG
2 papers
NM_002477.2
p.D115fs
c.343_344fs
3 papers
NM_002477.2
p.D115delFs
c.345delC
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.E123G
c.368A>G
1 paper
NM_002477.2
p.M130V
c.388A>G
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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."