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

3 papers

NM_002293.4

p.F386Y

c.1157T>A

Surrounding Variants

1 paper

NM_002293.4

p.F386F

c.1158C>T

1 paper

NM_002293.4

p.S401G

c.1201A>G

1 paper

NM_002293.4

p.H363L

c.1088A>T

1 paper

NM_002293.4

p.G362S

c.1084G>A

1 paper

NM_002293.4

p.R359C

c.1075C>T

1 paper

NM_002293.4

p.R347Q

c.1040G>A

2 papers

NM_002293.4

p.R347*

c.1039C>T

1 paper

NM_002293.4

p.N345D

c.1033A>G

1 paper

NM_002293.4

p.P341Splc

c.1022-16G>T

1 paper

NM_002293.4

p.S417I

c.1250G>T

1 paper

NM_002293.4

p.C430F

c.1289G>T

1 paper

NM_002293.4

p.Q431_P432insFs

c.1293_1294insG