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.G748A

c.2243G>C

Surrounding Variants

2 papers

NM_002293.4

p.T746M

c.2237C>T

1 paper

NM_002293.4

p.A764T

c.2290G>A

1 paper

NM_002293.4

p.P772R

c.2315C>G

1 paper

NM_002293.4

p.P772P

c.2316C>T

1 paper

NM_002293.4

p.A782fs

c.2344_2345fs

1 paper

NM_002293.4

p.A782delFs

c.2345delC

1 paper

NM_002293.4

p.V784I

c.2350G>A

1 paper

NM_002293.4

p.G738Splc

c.2212+5G>T

1 paper

NM_002293.4

p.E731D

c.2193G>C

1 paper

NM_002293.4

p.E731D

c.2193G>T

2 papers

NM_002293.4

p.E731K

c.2191G>A

1 paper

NM_002293.4

p.S730S

c.2190C>T