Varaico: Literature-Extracted Genetic Variants

LAMC3

193 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 35–269UCSCLaminin N-terminal (Domain VI)

EGF_LMN_ATRNaa 271–317UCSCLaminin/attractin EGF domain

EGF_lamininaa 327–380UCSCLaminin EGF domain

EGF_lamininaa 383–427UCSCLaminin EGF domain

EGF_lamininaa 430–477UCSCLaminin EGF domain

Laminin_Baa 539–671UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit gamma 3

HGNC Alias Symbol

DKFZp434E202

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_006059.4

p.P326Splc

c.976+1G>C

Surrounding Variants

6 papers

NM_006059.4

p.P326Splc

c.976+1G>A

1 paper

NM_006059.4

p.E319*

c.955G>T

1 paper

NM_006059.4

p.T317S

c.950C>G

1 paper

NM_006059.4

p.T317S

c.949A>T

1 paper

NM_006059.4

p.R311L

c.932G>T

2 papers

NM_006059.4

p.P306S

c.916C>T

1 paper

NM_006059.4

p.R303C

c.907C>T

1 paper

NM_006059.4

p.E302Q

c.904G>C

6 papers

NM_006059.4

p.C301*

c.903T>A

2 papers

NM_006059.4

p.C301_E302delFs

c.903_904delTG

1 paper

NM_006059.4

p.G298S

c.892G>A

1 paper

NM_006059.4

p.A285A

c.855A>G