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.Q1064*

c.3190C>T

Surrounding Variants

1 paper

NM_006059.4

p.D1061delFs

c.3181delG

1 paper

NM_006059.4

p.W1047*

c.3141G>A

1 paper

NM_006059.4

p.C1043Y

c.3128G>A

1 paper

NM_006059.4

p.G1036G

c.3108G>A

2 papers

NM_006059.4

p.T1034M

c.3101C>T

4 papers

NM_006059.4

p.S1082G

c.3244A>G

1 paper

NM_006059.4

p.R1102S

c.3304C>A

2 papers

NM_006059.4

p.G1107R

c.3319G>A

2 papers

NM_006059.4

p.G1107R

c.3319G>C

3 papers

NM_006059.4

p.S1124F

c.3371C>T

1 paper

NM_006059.4

p.S1125*

c.3374C>A

1 paper

NM_006059.4

p.I1135L

c.3403A>C