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

1–12 of 287 variants

7 papers

NM_006059.4

p.G350R

c.1048G>A

7 papers

NM_006059.4

p.G350R

c.1048G>C

7 papers

NM_006059.4

p.R1459Q

c.4376G>A

6 papers

NM_006059.4

p.C301*

c.903T>A

6 papers

NM_006059.4

p.P326Splc

c.976+1G>A

6 papers

NM_006059.4

p.Q386*

c.1156C>T

5 papers

NM_006059.4

p.Y128*

c.384T>A

5 papers

NM_006059.4

p.Y128*

c.384T>G

5 papers

NM_006059.4

p.P326Splc

c.976+1G>C

5 papers

NM_006059.4

p.Q1064*

c.3190C>T

5 papers

NM_006059.4

p.R1291*

c.3871C>T

5 papers

NM_006059.4

p.D1363fs

c.4087_4088fs