Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.F79S

MYL2

416 papers

RefSeq Summary

This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded prote...

Pfam Domains

EF-hand_7aa 7–67UCSCEF-hand domain pair

Gene Aliases

HGNC Name

myosin light chain 2

HGNC Alias Symbol

CMH10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000432.4
p.F79S
c.236T>C
Surrounding Variants
5 papers
NM_000432.4
p.T80N
c.239C>A
1 paper
NM_000432.4
p.L83F
c.247C>T
1 paper
NM_000432.4
p.G75C
c.223G>T
1 paper
NM_000432.4
p.G75S
c.223G>A
4 papers
NM_000432.4
p.P74L
c.221C>T
2 papers
NM_000432.4
p.M85T
c.254T>C
1 paper
NM_000432.4
p.A73S
c.217G>T
1 paper
NM_000432.4
p.L83_M85del0
c.248_253del6
1 paper
NM_000432.4
p.F86L
c.256T>C
4 papers
NM_000432.4
p.F86S
c.257T>C
1 paper
NM_000432.4
p.F86L
c.258T>G
1 paper
NM_000432.4
p.F86L
c.258T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."