Varaico: Literature-Extracted Genetic Variants

LAMC1

228 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 50–284UCSCLaminin N-terminal (Domain VI)

EGF_LMN_ATRNaa 286–332UCSCLaminin/attractin EGF domain

EGF_lamininaa 342–395UCSCLaminin EGF domain

EGF_lamininaa 398–442UCSCLaminin EGF domain

EGF_lamininaa 445–492UCSCLaminin EGF domain

Laminin_Baa 558–688UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit gamma 1

HGNC Previous Name

laminin, gamma 1 (formerly LAMB2)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_002293.4

p.L888P

c.2663T>C

Surrounding Variants

1 paper

NM_002293.4

p.T891I

c.2672C>T

1 paper

NM_002293.4

p.A883Splc

c.2648-2A>G

1 paper

NM_002293.4

p.Q895*

c.2683C>T

1 paper

NM_002293.4

p.S896C

c.2686A>T

1 paper

NM_002293.4

p.P900L

c.2699C>T

1 paper

NM_002293.4

p.V911M

c.2731G>A

1 paper

NM_002293.4

p.K882R

c.2645A>G

1 paper

NM_002293.4

p.F868delFs

c.2602delT

2 papers

NM_002293.4

p.R863W

c.2587C>T

1 paper

NM_002293.4

p.K851K

c.2553G>A

1 paper

NM_002293.4

p.T846M

c.2537C>T

1 paper

NM_002293.4

p.N843S

c.2528A>G