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.L685P

c.2054T>C

Surrounding Variants

1 paper

NM_000426.4

p.L685R

c.2054T>G

1 paper

NM_000426.4

p.L685del1

c.2053_2054delCTC

1 paper

NM_000426.4

p.R683_Q687delFs

c.2049_2059del11

3 papers

NM_000426.4

p.R683fs

c.2047_2048fs

1 paper

NM_000426.4

p.R683G

c.2047A>G

1 paper

NM_000426.4

p.I688_G693del6

c.2062_2078del18

17 papers

NM_000426.4

p.R683fs

c.2047_2048fs

1 paper

NM_000426.4

p.I688V

c.2062A>G

33 papers

NM_000426.4

p.R683_V684delFs

c.2049_2050delAG

1 paper

NM_000426.4

p.Y690_S691insFs

c.2070_2071ins5

1 paper

NM_000426.4

p.F692insFs

c.2076dupT

1 paper

NM_000426.4

p.T676_Y690del15

c.2026_2069del45