Varaico: Literature-Extracted Genetic Variants

LAMC1

228 papers

RefSeq Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including ...

Pfam Domains

Laminin_Naa 50–284UCSCLaminin N-terminal (Domain VI)

EGF_LMN_ATRNaa 286–332UCSCLaminin/attractin EGF domain

EGF_lamininaa 342–395UCSCLaminin EGF domain

EGF_lamininaa 398–442UCSCLaminin EGF domain

EGF_lamininaa 445–492UCSCLaminin EGF domain

Laminin_Baa 558–688UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit gamma 1

HGNC Previous Name

laminin, gamma 1 (formerly LAMB2)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002293.4

p.R490W

c.1468C>T

Surrounding Variants

1 paper

NM_002293.4

p.G491G

c.1473T>C

1 paper

NM_002293.4

p.F498C

c.1493T>G

1 paper

NM_002293.4

p.S514Y

c.1541C>A

1 paper

NM_002293.4

p.S517T

c.1549T>A

1 paper

NM_002293.4

p.F519L

c.1555T>C

1 paper

NM_002293.4

p.F519L

c.1557T>A

1 paper

NM_002293.4

p.F519L

c.1557T>G

1 paper

NM_002293.4

p.Q520*

c.1558C>T

1 paper

NM_002293.4

p.R476Splc

c.1427+8A>G

1 paper

NM_002293.4

p.R476*

c.1426A>T

16 papers

NM_002293.4

p.I458V

c.1372A>G

1 paper

NM_002293.4

p.P449L

c.1346C>T