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

1–12 of 1745 variants

33 papers

NM_000426.4

p.R683_V684delFs

c.2049_2050delAG

22 papers

NM_000426.4

p.R1326*

c.3976C>T

22 papers

NM_000426.4

p.R2383*

c.7147C>T

20 papers

NM_000426.4

p.R2319*

c.6955C>T

19 papers

NM_000426.4

p.A2587V

c.7760C>T

18 papers

NM_000426.4

p.R2578*

c.7732C>T

17 papers

NM_000426.4

p.R683fs

c.2047_2048fs

16 papers

NM_000426.4

p.R1826*

c.5476C>T

15 papers

NM_000426.4

p.K2049_D2050del2

c.6145_6149del6

14 papers

NM_000426.4

p.R744*

c.2230C>T

14 papers

NM_000426.4

p.R1350*

c.4048C>T

14 papers

NM_000426.4

p.R1549*

c.4645C>T