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

16 papers

NM_000426.4

p.R1826*

c.5476C>T

Surrounding Variants

1 paper

NM_000426.4

p.G1824D

c.5471G>A

1 paper

NM_000426.4

p.G1824_Q1827delFs

c.5472_5481del10

1 paper

NM_000426.4

p.G1824S

c.5470G>A

1 paper

NM_000426.4

p.I1828T

c.5483T>C

1 paper

NM_000426.4

p.I1828_E1829delFs

c.5484_5485delTG

2 papers

NM_000426.4

p.E1822E

c.5466A>G

1 paper

NM_000426.4

p.S1823_G1824del2

c.5467_5471del6

1 paper

NM_000426.4

p.V1821delFs

c.5462_5463delTT

1 paper

NM_000426.4

p.K1818fs

c.5452_5453fs

1 paper

NM_000426.4

p.E1834K

c.5500G>A

1 paper

NM_000426.4

p.K1817_A1820delFs

c.5451_5458del8

2 papers

NM_000426.4

p.E1834E

c.5502G>A