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.T1824R

c.5471C>G

Surrounding Variants

3 papers

NM_005559.4

p.D1818N

c.5452G>A

1 paper

NM_005559.4

p.G1815G

c.5445A>G

1 paper

NM_005559.4

p.Q1812E

c.5434C>G

2 papers

NM_005559.4

p.L1797L

c.5391G>A

3 papers

NM_005559.4

p.Q1838*

c.5512C>T

1 paper

NM_005559.4

p.L1843S

c.5528T>C

1 paper

NM_005559.4

p.W1844R

c.5530T>C

1 paper

NM_005559.4

p.W1844R

c.5530T>A

1 paper

NM_005559.4

p.K1847I

c.5540A>T

1 paper

NM_005559.4

p.V1856F

c.5566G>T

1 paper

NM_005559.4

p.M1857V

c.5569A>G

1 paper

NM_005559.4

p.R1862K

c.5585G>A