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

1 paper

NM_002293.4

p.R1000H

c.2999G>A

Surrounding Variants

1 paper

NM_002293.4

p.R1000C

c.2998C>T

5 papers

NM_002293.4

p.R1011H

c.3032G>A

1 paper

NM_002293.4

p.N1022S

c.3065A>G

1 paper

NM_002293.4

p.R1023Q

c.3068G>A

1 paper

NM_002293.4

p.Y1035S

c.3104A>C

3 papers

NM_002293.4

p.V1038G

c.3113T>G

1 paper

NM_002293.4

p.P982Splc

c.2944+6G>A

2 papers

NM_002293.4

p.Q957H

c.2871G>C

2 papers

NM_002293.4

p.Q957H

c.2871G>T

2 papers

NM_002293.4

p.G952S

c.2854G>A

1 paper

NM_002293.4

p.R950C

c.2848C>T

2 papers

NM_002293.4

p.G945E

c.2834G>A