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

2 papers

NM_000426.4

p.W1569*

c.4706G>A

Surrounding Variants

2 papers

NM_000426.4

p.W1569*

c.4707G>A

2 papers

NM_000426.4

p.E1570V

c.4709A>T

2 papers

NM_000426.4

p.E1570_C1571delFs

c.4710_4711delGT

1 paper

NM_000426.4

p.C1571fs

c.4711_4712fs

1 paper

NM_000426.4

p.V1572del1

c.4714_4715delGTT

1 paper

NM_000426.4

p.V1572_F1573delFs

c.4714_4717del4

2 papers

NM_000426.4

p.V1572fs

c.4714_4715fs

1 paper

NM_000426.4

p.R1566C

c.4696C>T

3 papers

NM_000426.4

p.R1566fs

c.4696_4697fs

2 papers

NM_000426.4

p.A1565V

c.4694C>T

2 papers

NM_000426.4

p.F1573Splc

c.4717+1G>T

1 paper

NM_000426.4

p.A1565T

c.4693G>A