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.T254A

c.760A>G

Surrounding Variants

1 paper

NM_005559.4

p.I252delFs

c.756delA

1 paper

NM_005559.4

p.R255G

c.763A>G

1 paper

NM_005559.4

p.I252fs

c.754_755fs

2 papers

NM_005559.4

p.R256H

c.767G>A

8 papers

NM_005559.4

p.R256_Y257Splc

c.768+1G>A

1 paper

NM_005559.4

p.D250E

c.750T>G

1 paper

NM_005559.4

p.E248V

c.743A>T

1 paper

NM_005559.4

p.K247ins2

c.739_740ins6

1 paper

NM_005559.4

p.E245V

c.734A>T

1 paper

NM_005559.4

p.E245*

c.733G>T

1 paper

NM_005559.4

p.E245K

c.733G>A

1 paper

NM_005559.4

p.R244fs

c.730_731fs