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.S1577A

c.4729T>G

Surrounding Variants

1 paper

NM_005559.4

p.V1575I

c.4723G>A

1 paper

NM_005559.4

p.D1573H

c.4717G>C

1 paper

NM_005559.4

p.G1572fs

c.4714_4715fs

1 paper

NM_005559.4

p.G1572delFs

c.4715delC

2 papers

NM_005559.4

p.G1572D

c.4715G>A

1 paper

NM_005559.4

p.G1572fs

c.4714_4715fs

2 papers

NM_005559.4

p.L1568delFs

c.4702_4703delAA

2 papers

NM_005559.4

p.L1568fs

c.4702_4703fs

4 papers

NM_005559.4

p.E1559delFs

c.4676delT

2 papers

NM_005559.4

p.E1559fs

c.4675_4676fs

1 paper

NM_005559.4

p.K1599E

c.4795A>G

1 paper

NM_005559.4

p.K1599T

c.4796A>C