Varaico: Literature-Extracted Genetic Variants

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.M2378V

c.7132A>G

Surrounding Variants

2 papers

NM_000426.4

p.Y2379*

c.7137T>A

1 paper

NM_000426.4

p.Y2379*

c.7137T>G

1 paper

NM_000426.4

p.S2374N

c.7121G>A

1 paper

NM_000426.4

p.S2373L

c.7118C>T

22 papers

NM_000426.4

p.R2383*

c.7147C>T

1 paper

NM_000426.4

p.S2372A

c.7114T>G

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.F2366L

c.7096T>C

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