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.F2343S

c.7028T>C

Surrounding Variants

1 paper

NM_000426.4

p.D2344H

c.7030G>C

2 papers

NM_000426.4

p.Q2342R

c.7025A>G

1 paper

NM_000426.4

p.G2339E

c.7016G>A

3 papers

NM_000426.4

p.G2347V

c.7040G>T

2 papers

NM_000426.4

p.S2352T

c.7055G>C

1 paper

NM_000426.4

p.S2352delFs

c.7056delC

1 paper

NM_000426.4

p.S2352S

c.7056C>T

5 papers

NM_000426.4

p.R2353C

c.7057C>T

1 paper

NM_000426.4

p.R2353L

c.7058G>T

2 papers

NM_000426.4

p.S2331Splc

c.6993-1G>C

4 papers

NM_000426.4

p.S2331Splc

c.6993-2A>C

3 papers

NM_000426.4

p.S2331Splc

c.6993-2A>G