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.L1839I

c.5515C>A

Surrounding Variants

1 paper

NM_000426.4

p.I1838insFs

c.5513_5514insG

1 paper

NM_000426.4

p.D1840Y

c.5518G>T

1 paper

NM_000426.4

p.D1837Y

c.5509G>T

1 paper

NM_000426.4

p.A1842delFs

c.5526delC

3 papers

NM_000426.4

p.A1842V

c.5525C>T

1 paper

NM_000426.4

p.A1842A

c.5526C>A

1 paper

NM_000426.4

p.N1843fs

c.5527_5528fs

2 papers

NM_000426.4

p.E1834E

c.5502G>A

7 papers

NM_000426.4

p.R1844S

c.5530C>A

1 paper

NM_000426.4

p.E1834K

c.5500G>A

1 paper

NM_000426.4

p.R1844H

c.5531G>A

1 paper

NM_000426.4

p.A1846insFs

c.5537_5538insT