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

18 papers

NM_000426.4

p.R2578*

c.7732C>T

Surrounding Variants

2 papers

NM_000426.4

p.R2578Q

c.7733G>A

1 paper

NM_000426.4

p.P2574S

c.7720C>T

1 paper

NM_000426.4

p.T2570_P2571insGCA

c.7708_7712ins9

2 papers

NM_000426.4

p.T2570A

c.7708A>G

1 paper

NM_000426.4

p.S2567delins

c.7701delinsGTGTCCCTAGGTGTCCCTA

3 papers

NM_000426.4

p.L2564P

c.7691T>C

3 papers

NM_000426.4

p.G2561S

c.7681G>A

1 paper

NM_000426.4

p.F2554S

c.7661T>C

2 papers

NM_000426.4

p.S2553delFs

c.7658delC

1 paper

NM_000426.4

p.V2529_S2530insFs

c.7586_7589dup4

1 paper

NM_000426.4

p.Y2527*

c.7581C>A

1 paper

NM_000426.4

p.Y2527*

c.7581C>G