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

1–12 of 247 variants

16 papers

NM_002293.4

p.I458V

c.1372A>G

16 papers

NM_002293.4

p.L888P

c.2663T>C

10 papers

NM_002293.4

p.N1205S

c.3614A>G

8 papers

NM_002293.4

p.R1121Q

c.3362G>A

6 papers

NM_002293.4

p.P321S

c.961C>T

6 papers

NM_002293.4

p.E1266K

c.3796G>A

5 papers

NM_002293.4

p.G170E

c.509G>A

5 papers

NM_002293.4

p.R1011H

c.3032G>A

4 papers

NM_002293.4

p.A725T

c.2173G>A

3 papers

NM_002293.4

p.F386Y

c.1157T>A

3 papers

NM_002293.4

p.R490W

c.1468C>T

3 papers

NM_002293.4

p.D532E

c.1596T>A