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

6 papers

NM_000426.4

p.Y2358*

c.7074C>G

Surrounding Variants

8 papers

NM_000426.4

p.Y2358*

c.7074C>A

2 papers

NM_000426.4

p.Y2358insFs

c.7073_7074insC

1 paper

NM_000426.4

p.W2357*

c.7071G>A

1 paper

NM_000426.4

p.N2360fs

c.7078_7079fs

1 paper

NM_000426.4

p.W2357*

c.7070G>A

1 paper

NM_000426.4

p.R2356C

c.7066C>T

1 paper

NM_000426.4

p.I2361T

c.7082T>C

1 paper

NM_000426.4

p.S2362S

c.7086C>T

1 paper

NM_000426.4

p.T2363I

c.7088C>T

1 paper

NM_000426.4

p.R2353L

c.7058G>T

5 papers

NM_000426.4

p.R2353C

c.7057C>T

1 paper

NM_000426.4

p.S2352S

c.7056C>T