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.R1189Splc

c.3566+2T>A

Surrounding Variants

1 paper

NM_002293.4

p.A1183T

c.3547G>A

1 paper

NM_002293.4

p.L1179M

c.3535T>A

1 paper

NM_002293.4

p.V1162_S1163Splc

c.3487-353G>A

1 paper

NM_002293.4

p.L1144M

c.3430T>A

1 paper

NM_002293.4

p.R1143W

c.3427C>T

1 paper

NM_002293.4

p.R1135C

c.3403C>T

1 paper

NM_002293.4

p.A1134V

c.3401C>T

8 papers

NM_002293.4

p.R1121Q

c.3362G>A

1 paper

NM_002293.4

p.R1121W

c.3361C>T

2 papers

NM_002293.4

p.R1116H

c.3347G>A

1 paper

NM_002293.4

p.A1194T

c.3580G>A

1 paper

NM_002293.4

p.D1094V

c.3281A>T