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.G1964C

c.5890G>T

Surrounding Variants

3 papers

NM_005559.4

p.N1956S

c.5867A>G

1 paper

NM_005559.4

p.A1943V

c.5828C>T

1 paper

NM_005559.4

p.L1932V

c.5794C>G

1 paper

NM_005559.4

p.H1924N

c.5770C>A

1 paper

NM_005559.4

p.A1920S

c.5758G>T

1 paper

NM_005559.4

p.Y1904F

c.5711A>T

1 paper

NM_005559.4

p.A1903T

c.5707G>A

1 paper

NM_005559.4

p.T1900T

c.5700C>A

1 paper

NM_005559.4

p.S1887Splc

c.5661-2A>G

1 paper

NM_005559.4

p.G1964C

c.5890G>T

1 paper

NM_005559.4

p.E1981K

c.5941G>A

1 paper

NM_005559.4

p.A1983V

c.5948C>T