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

4 papers

NM_006059.4

p.W157*

c.471G>A

Surrounding Variants

4 papers

NM_006059.4

p.W157*

c.470G>A

1 paper

NM_006059.4

p.A153T

c.457G>A

3 papers

NM_006059.4

p.R152C

c.454C>T

1 paper

NM_006059.4

p.Q168*

c.502C>T

1 paper

NM_006059.4

p.Y171Y

c.513C>T

1 paper

NM_006059.4

p.E143Q

c.427G>C

4 papers

NM_006059.4

p.P174H

c.521C>A

1 paper

NM_006059.4

p.E175K

c.523G>A

1 paper

NM_006059.4

p.H138Y

c.412C>T

1 paper

NM_006059.4

p.R180C

c.538C>T

1 paper

NM_006059.4

p.G182S

c.544G>A

1 paper

NM_006059.4

p.E185K

c.553G>A