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.D1363fs

c.4087_4088fs

Surrounding Variants

2 papers

NM_006059.4

p.A1362delFs

c.4086delA

4 papers

NM_006059.4

p.R1368_L1369delFs

c.4102_4105del4

3 papers

NM_006059.4

p.R1368fs

c.4102_4103fs

1 paper

NM_006059.4

p.A1371P

c.4111G>C

1 paper

NM_006059.4

p.K1376T

c.4127A>C

1 paper

NM_006059.4

p.E1381K

c.4141G>A

1 paper

NM_006059.4

p.G1344V

c.4031G>T

1 paper

NM_006059.4

p.R1382S

c.4146G>C

1 paper

NM_006059.4

p.R1382S

c.4146G>T

1 paper

NM_006059.4

p.A1387V

c.4160C>T

1 paper

NM_006059.4

p.K1410_L1411Splc

c.4231-12C>G

4 papers

NM_006059.4

p.T1433M

c.4298C>T