Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.K4fs

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.K4fs
c.10_11fs
Surrounding Variants
1 paper
NM_000432.4
p.K4M
c.11A>T
1 paper
NM_000432.4
p.K4N
c.12G>C
23 papers
NM_000432.4
p.K5*
c.13A>T
1 paper
NM_000432.4
p.A2V
c.5C>T
1 paper
NM_000432.4
p.A2insFs
c.4dupG
2 papers
NM_000432.4
p.A2S
c.4G>T
1 paper
NM_000432.4
p.A6insFs
c.16_17insCT
1 paper
NM_000432.4
p.A2P
c.4G>C
1 paper
NM_000432.4
p.A2T
c.4G>A
2 papers
NM_000432.4
p.K4_K5delFs
c.11_15del5
1 paper
NM_000432.4
p.M1_A2Splc
c.4-2A>G
1 paper
NM_000432.4
p.A6insFs
c.17_18insCT
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