Varaico: Literature-Extracted Genetic Variants

LAMA1

387 papers

RefSeq Summary

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma ch...

Pfam Domains

Laminin_Naa 22–268UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 270–324UCSCLaminin EGF domain

EGF_lamininaa 327–394UCSCLaminin EGF domain

EGF_lamininaa 397–453UCSCLaminin EGF domain

EGF_lamininaa 454–500UCSCLaminin EGF domain

Laminin_Baa 568–707UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit alpha 1

HGNC Previous Name

laminin, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005559.4

p.T996delFs

c.2986delT

Surrounding Variants

2 papers

NM_005559.4

p.T996fs

c.2986_2987fs

1 paper

NM_005559.4

p.P997S

c.2989C>T

1 paper

NM_005559.4

p.F987_Y988del2

c.2959_2963del6

1 paper

NM_005559.4

p.Y988delFs

c.2962delA

1 paper

NM_005559.4

p.Y988fs

c.2962_2963fs

1 paper

NM_005559.4

p.C980G

c.2938T>G

1 paper

NM_005559.4

p.R979fs

c.2935_2936fs

5 papers

NM_005559.4

p.R979delFs

c.2935delT

4 papers

NM_005559.4

p.R979fs

c.2935_2936fs

5 papers

NM_005559.4

p.G967D

c.2900G>A

1 paper

NM_005559.4

p.D965N

c.2893G>A

1 paper

NM_005559.4

p.P950T

c.2848C>A