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.F1243L

c.3727T>C

Surrounding Variants

1 paper

NM_005559.4

p.F1243L

c.3729C>G

1 paper

NM_005559.4

p.F1243L

c.3729C>A

1 paper

NM_005559.4

p.A1242T

c.3724G>A

1 paper

NM_005559.4

p.A1242_Y1244delFs

c.3726_3730del5

1 paper

NM_005559.4

p.V1249I

c.3745G>A

1 paper

NM_005559.4

p.K1236R

c.3707A>G

1 paper

NM_005559.4

p.Y1233*

c.3699T>G

1 paper

NM_005559.4

p.Y1233*

c.3699T>A

1 paper

NM_005559.4

p.S1252F

c.3755C>T

1 paper

NM_005559.4

p.Q1268delFs

c.3804delT

1 paper

NM_005559.4

p.I1270M

c.3810T>G

1 paper

NM_005559.4

p.P1275L

c.3824C>T