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.T173P

c.517A>C

Surrounding Variants

1 paper

NM_005559.4

p.T173I

c.518C>T

1 paper

NM_005559.4

p.P171L

c.512C>T

1 paper

NM_005559.4

p.T173_Y174insFs

c.519_522dup4

1 paper

NM_005559.4

p.D177H

c.529G>C

1 paper

NM_005559.4

p.E179*

c.535G>T

1 paper

NM_005559.4

p.P167T

c.499C>A

1 paper

NM_005559.4

p.E179_V180delFs

c.535_538del4

1 paper

NM_005559.4

p.I165fs

c.493_494fs

1 paper

NM_005559.4

p.I165delFs

c.494delA

1 paper

NM_005559.4

p.I181N

c.542T>A

1 paper

NM_005559.4

p.R162H

c.485G>A

2 papers

NM_005559.4

p.R162C

c.484C>T