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

4 papers

NM_000426.4

p.R2630*

c.7888C>T

Surrounding Variants

1 paper

NM_000426.4

p.R2630Q

c.7889G>A

3 papers

NM_000426.4

p.R2632G

c.7894A>G

6 papers

NM_000426.4

p.H2627Q

c.7881T>A

6 papers

NM_000426.4

p.H2627Q

c.7881T>G

1 paper

NM_000426.4

p.R2632R

c.7896A>G

4 papers

NM_000426.4

p.H2627D

c.7879C>G

4 papers

NM_000426.4

p.G2633A

c.7898G>C

1 paper

NM_000426.4

p.G2633Splc

c.7898+1G>A

2 papers

NM_000426.4

p.G2633Splc

c.7898+1G>T

1 paper

NM_000426.4

p.G2633Splc

c.7898+2T>G

1 paper

NM_000426.4

p.R2622fs

c.7864_7865fs

1 paper

NM_000426.4

p.G2621V

c.7862G>T