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.D532E

c.1596T>G

Surrounding Variants

3 papers

NM_002293.4

p.D532E

c.1596T>A

1 paper

NM_002293.4

p.S534C

c.1601C>G

1 paper

NM_002293.4

p.S537F

c.1610C>T

1 paper

NM_002293.4

p.E523Q

c.1567G>C

1 paper

NM_002293.4

p.P556S

c.1666C>T

3 papers

NM_002293.4

p.R557W

c.1669C>T

1 paper

NM_002293.4

p.A563Splc

c.1687+9G>A

1 paper

NM_002293.4

p.R582L

c.1745G>T

1 paper

NM_002293.4

p.R589H

c.1766G>A

2 papers

NM_002293.4

p.A592A

c.1776A>C

1 paper

NM_002293.4

p.L597L

c.1791T>C

2 papers

NM_002293.4

p.A610T

c.1828G>A