Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.F2366L

LAMA2

983 papers

RefSeq Summary

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic developmen...

Pfam Domains

Laminin_Naa 39–285UCSCLaminin N-terminal (Domain VI)
EGF_lamininaa 344–411UCSCLaminin EGF domain
EGF_lamininaa 414–468UCSCLaminin EGF domain
EGF_lamininaa 469–515UCSCLaminin EGF domain
Laminin_Baa 583–722UCSCLaminin B (Domain IV)
EGF_lamininaa 719–749UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit alpha 2

HGNC Previous Symbol

LAMM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000426.4
p.F2366L
c.7096T>C
Surrounding Variants
1 paper
NM_000426.4
p.F2366L
c.7098C>A
1 paper
NM_000426.4
p.F2366L
c.7098C>G
1 paper
NM_000426.4
p.T2363I
c.7088C>T
1 paper
NM_000426.4
p.S2362S
c.7086C>T
1 paper
NM_000426.4
p.I2361T
c.7082T>C
1 paper
NM_000426.4
p.N2360fs
c.7078_7079fs
1 paper
NM_000426.4
p.S2372A
c.7114T>G
8 papers
NM_000426.4
p.Y2358*
c.7074C>A
6 papers
NM_000426.4
p.Y2358*
c.7074C>G
1 paper
NM_000426.4
p.S2373L
c.7118C>T
2 papers
NM_000426.4
p.Y2358insFs
c.7073_7074insC
1 paper
NM_000426.4
p.W2357*
c.7071G>A
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