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

14 papers

NM_000426.4

p.R1549*

c.4645C>T

Surrounding Variants

2 papers

NM_000426.4

p.C1548*

c.4644C>A

1 paper

NM_000426.4

p.P1550L

c.4649C>T

1 paper

NM_000426.4

p.T1547M

c.4640C>T

6 papers

NM_000426.4

p.C1546*

c.4638C>A

2 papers

NM_000426.4

p.A1552T

c.4654G>A

1 paper

NM_000426.4

p.R1555insFs

c.4665dupG

1 paper

NM_000426.4

p.V1542A

c.4625T>C

1 paper

NM_000426.4

p.P1541S

c.4621C>T

1 paper

NM_000426.4

p.G1559S

c.4675G>A

1 paper

NM_000426.4

p.G1559_K1561delFs

c.4676_4682del7

1 paper

NM_000426.4

p.C1560fs

c.4678_4679fs

1 paper

NM_000426.4

p.P1536L

c.4607C>T