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

2 papers

NM_006059.4

p.R1472Q

c.4415G>A

Surrounding Variants

1 paper

NM_006059.4

p.R1472W

c.4414C>T

1 paper

NM_006059.4

p.S1474L

c.4421C>T

1 paper

NM_006059.4

p.S1474S

c.4422G>A

1 paper

NM_006059.4

p.R1475H

c.4424G>A

1 paper

NM_006059.4

p.G1493Splc

c.4477+1G>A

7 papers

NM_006059.4

p.R1459Q

c.4376G>A

2 papers

NM_006059.4

p.R1450H

c.4349G>A

1 paper

NM_006059.4

p.V1444A

c.4331T>C

1 paper

NM_006059.4

p.V1444G

c.4331T>G

1 paper

NM_006059.4

p.S1441T

c.4321T>A

1 paper

NM_006059.4

p.Q1434H

c.4302A>C

1 paper

NM_006059.4

p.Q1434H

c.4302A>T