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

4 papers

NM_002293.4

p.A725T

c.2173G>A

Surrounding Variants

1 paper

NM_002293.4

p.A725A

c.2175C>A

1 paper

NM_002293.4

p.S730S

c.2190C>T

2 papers

NM_002293.4

p.E731K

c.2191G>A

1 paper

NM_002293.4

p.E731D

c.2193G>C

1 paper

NM_002293.4

p.E731D

c.2193G>T

1 paper

NM_002293.4

p.G738Splc

c.2212+5G>T

1 paper

NM_002293.4

p.E702Q

c.2104G>C

2 papers

NM_002293.4

p.T685A

c.2053A>G

1 paper

NM_002293.4

p.P683_A684delFs

c.2049_2050delTG

1 paper

NM_002293.4

p.D669N

c.2005G>A

2 papers

NM_002293.4

p.T746M

c.2237C>T

1 paper

NM_002293.4

p.G748A

c.2243G>C