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

7 papers

NM_005559.4

p.M1340V

c.4018A>G

Surrounding Variants

1 paper

NM_005559.4

p.V1342V

c.4026T>G

1 paper

NM_005559.4

p.E1354K

c.4060G>A

2 papers

NM_005559.4

p.E1360D

c.4080G>T

2 papers

NM_005559.4

p.E1360D

c.4080G>C

1 paper

NM_005559.4

p.I1320V

c.3958A>G

2 papers

NM_005559.4

p.D1316N

c.3946G>A

1 paper

NM_005559.4

p.D1309Y

c.3925G>T

1 paper

NM_005559.4

p.R1307Q

c.3920G>A

5 papers

NM_005559.4

p.R1307*

c.3919C>T

1 paper

NM_005559.4

p.W1294L

c.3881G>T

2 papers

NM_005559.4

p.W1294*

c.3881G>A

1 paper

NM_005559.4

p.R1391fs

c.4171_4172fs