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.D767delFs

c.2299delG

Surrounding Variants

1 paper

NM_000426.4

p.S765insFs

c.2294_2295insT

1 paper

NM_000426.4

p.V769I

c.2305G>A

1 paper

NM_000426.4

p.A763V

c.2288C>T

1 paper

NM_000426.4

p.C773C

c.2319C>T

1 paper

NM_000426.4

p.C759S

c.2276G>C

1 paper

NM_000426.4

p.C759S

c.2275T>A

1 paper

NM_000426.4

p.C759_G761del3

c.2275_2282del9

1 paper

NM_000426.4

p.L774_N775Splc

c.2322+1G>C

1 paper

NM_000426.4

p.Q758*

c.2272C>T

2 papers

NM_000426.4

p.E755K

c.2263G>A

1 paper

NM_000426.4

p.E755_C759del0

c.2264_2275del12

1 paper

NM_000426.4

p.C754delFs

c.2260delT