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

1 paper

NM_000426.4

p.C1560fs

c.4678_4679fs

Surrounding Variants

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.K1561K

c.4683G>A

1 paper

NM_000426.4

p.H1562R

c.4685A>G

4 papers

NM_000426.4

p.H1564_A1565insFs

c.4692_4695dup4

1 paper

NM_000426.4

p.H1564_A1565delFs

c.4692_4695del4

2 papers

NM_000426.4

p.H1564Y

c.4690C>T

1 paper

NM_000426.4

p.R1555insFs

c.4665dupG

1 paper

NM_000426.4

p.A1565T

c.4693G>A

2 papers

NM_000426.4

p.A1565V

c.4694C>T

1 paper

NM_000426.4

p.R1566C

c.4696C>T

3 papers

NM_000426.4

p.R1566fs

c.4696_4697fs