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.W135*

c.405G>A

Surrounding Variants

1 paper

NM_005559.4

p.W135*

c.404G>A

2 papers

NM_005559.4

p.I136T

c.407T>C

1 paper

NM_005559.4

p.E138Q

c.412G>C

1 paper

NM_005559.4

p.E138K

c.412G>A

1 paper

NM_005559.4

p.P132delFs

c.394_395delGG

5 papers

NM_005559.4

p.R139C

c.415C>T

1 paper

NM_005559.4

p.R131Q

c.392G>A

1 paper

NM_005559.4

p.P130S

c.388C>T

1 paper

NM_005559.4

p.D142Y

c.424G>T

1 paper

NM_005559.4

p.N128S

c.383A>G

1 paper

NM_005559.4

p.G143delFs

c.428delC

1 paper

NM_005559.4

p.K125E

c.373A>G