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.T2079T

c.6237G>A

Surrounding Variants

1 paper

NM_000426.4

p.T2079M

c.6236C>T

2 papers

NM_000426.4

p.T2079fs

c.6235_6236fs

1 paper

NM_000426.4

p.T2079delFs

c.6235delA

2 papers

NM_000426.4

p.A2077T

c.6229G>A

1 paper

NM_000426.4

p.N2070_K2071ins5

c.6208_6212ins15

1 paper

NM_000426.4

p.Y2069*

c.6207C>A

1 paper

NM_000426.4

p.Y2069*

c.6207C>G

1 paper

NM_000426.4

p.Y2069C

c.6206A>G

3 papers

NM_000426.4

p.K2090Splc

c.6268+2T>C

1 paper

NM_000426.4

p.N2068Y

c.6202A>T

1 paper

NM_000426.4

p.K2090Splc

c.6268+5G>C

1 paper

NM_000426.4

p.K2067*

c.6199A>T