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

1 paper

NM_005559.4

p.P950T

c.2848C>A

Surrounding Variants

1 paper

NM_005559.4

p.C948Y

c.2843G>A

7 papers

NM_005559.4

p.Y939delFs

c.2816_2817delAT

5 papers

NM_005559.4

p.Y939fs

c.2815_2816fs

1 paper

NM_005559.4

p.D965N

c.2893G>A

5 papers

NM_005559.4

p.G967D

c.2900G>A

4 papers

NM_005559.4

p.R979fs

c.2935_2936fs

5 papers

NM_005559.4

p.R979delFs

c.2935delT

1 paper

NM_005559.4

p.R979fs

c.2935_2936fs

1 paper

NM_005559.4

p.C980G

c.2938T>G

1 paper

NM_005559.4

p.Y988fs

c.2962_2963fs

1 paper

NM_005559.4

p.Y988delFs

c.2962delA

1 paper

NM_005559.4

p.F987_Y988del2

c.2959_2963del6