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

5 papers

NM_002293.4

p.G170E

c.509G>A

Surrounding Variants

1 paper

NM_002293.4

p.G170R

c.508G>A

1 paper

NM_002293.4

p.G170R

c.508G>C

1 paper

NM_002293.4

p.W172R

c.514T>A

1 paper

NM_002293.4

p.R165C

c.493C>T

1 paper

NM_002293.4

p.S179C

c.535A>T

1 paper

NM_002293.4

p.A161G

c.482C>G

1 paper

NM_002293.4

p.G180R

c.538G>C

1 paper

NM_002293.4

p.S181Y

c.542C>A

1 paper

NM_002293.4

p.C182C

c.546T>C

1 paper

NM_002293.4

p.P157P

c.471G>A

1 paper

NM_002293.4

p.E183K

c.547G>A

1 paper

NM_002293.4

p.R156S

c.466C>A