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.G2064fs

c.6190_6191fs

Surrounding Variants

2 papers

NM_000426.4

p.G2064delFs

c.6191delG

1 paper

NM_000426.4

p.K2067del1

c.6199_6200delAAG

1 paper

NM_000426.4

p.K2067*

c.6199A>T

1 paper

NM_000426.4

p.N2068Y

c.6202A>T

1 paper

NM_000426.4

p.H2059Q

c.6177C>A

1 paper

NM_000426.4

p.H2059Q

c.6177C>G

1 paper

NM_000426.4

p.H2059N

c.6175C>A

1 paper

NM_000426.4

p.Y2069C

c.6206A>G

1 paper

NM_000426.4

p.Y2069*

c.6207C>A

1 paper

NM_000426.4

p.Y2069*

c.6207C>G

1 paper

NM_000426.4

p.N2070_K2071ins5

c.6208_6212ins15

1 paper

NM_000426.4

p.E2057G

c.6170A>G