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.R1291*

c.3871C>T

Surrounding Variants

1 paper

NM_006059.4

p.T1300M

c.3899C>T

1 paper

NM_006059.4

p.Q1261*

c.3781C>T

1 paper

NM_006059.4

p.P1260L

c.3779C>T

1 paper

NM_006059.4

p.L1259_P1260Splc

c.3778-17G>A

2 papers

NM_006059.4

p.Y1249C

c.3746A>G

1 paper

NM_006059.4

p.G1243insFs

c.3727dupG

1 paper

NM_006059.4

p.G1243delFs

c.3727delG

1 paper

NM_006059.4

p.V1235M

c.3703G>A

1 paper

NM_006059.4

p.A1232T

c.3694G>A

1 paper

NM_006059.4

p.A1232S

c.3694G>T

1 paper

NM_006059.4

p.V1225A

c.3674T>C

1 paper

NM_006059.4

p.V1225L

c.3673G>C