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

19 papers

NM_000426.4

p.A2587V

c.7760C>T

Surrounding Variants

1 paper

NM_000426.4

p.Y2586H

c.7756T>C

1 paper

NM_000426.4

p.A2584fs

c.7750_7751fs

4 papers

NM_000426.4

p.A2584fs

c.7750_7751fs

3 papers

NM_000426.4

p.Q2583_A2584Splc

c.7750-2A>G

1 paper

NM_000426.4

p.S2600F

c.7799C>T

13 papers

NM_000426.4

p.R2604*

c.7810C>T

1 paper

NM_000426.4

p.R2604Q

c.7811G>A

1 paper

NM_000426.4

p.R2604R

c.7812A>G

1 paper

NM_000426.4

p.T2605delFs

c.7814delC

1 paper

NM_000426.4

p.M2606delFs

c.7816delA

1 paper

NM_000426.4

p.M2606V

c.7816A>G

2 papers

NM_000426.4

p.M2606I

c.7818G>C