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

20 papers

NM_000426.4

p.R2319*

c.6955C>T

Surrounding Variants

2 papers

NM_000426.4

p.W2316*

c.6948G>A

1 paper

NM_000426.4

p.W2316*

c.6947G>A

1 paper

NM_000426.4

p.W2316L

c.6947G>T

1 paper

NM_000426.4

p.K2311*

c.6931A>T

3 papers

NM_000426.4

p.G2327*

c.6979G>T

1 paper

NM_000426.4

p.S2331Splc

c.6992+1G>T

1 paper

NM_000426.4

p.S2331Splc

c.6992+5G>A

1 paper

NM_000426.4

p.T2300A

c.6898A>G

2 papers

NM_000426.4

p.R2295H

c.6884G>A

5 papers

NM_000426.4

p.R2295C

c.6883C>T

2 papers

NM_000426.4

p.V2294L

c.6880G>C

2 papers

NM_000426.4

p.V2294L

c.6880G>T