Varaico: Literature-Extracted Genetic Variants

LAMB1

267 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_lamininaa 271–332UCSCLaminin EGF domain

EGF_lamininaa 335–395UCSCLaminin EGF domain

EGF_lamininaa 398–455UCSCLaminin EGF domain

EGF_lamininaa 458–507UCSCLaminin EGF domain

EGF_lamininaa 510–554UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 1

HGNC Previous Symbol

CLM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002291.3

p.V1220delFs

c.3659_3660delCA

Surrounding Variants

1 paper

NM_002291.3

p.S1222T

c.3664T>A

1 paper

NM_002291.3

p.V1220fs

c.3658_3659fs

1 paper

NM_002291.3

p.R1217L

c.3650G>T

1 paper

NM_002291.3

p.V1227G

c.3680T>G

1 paper

NM_002291.3

p.G1214R

c.3640G>A

1 paper

NM_002291.3

p.S1210T

c.3629G>C

1 paper

NM_002291.3

p.K1208R

c.3623A>G

1 paper

NM_002291.3

p.A1235V

c.3704C>T

1 paper

NM_002291.3

p.A1206T

c.3616G>A

1 paper

NM_002291.3

p.E1202G

c.3605A>G

1 paper

NM_002291.3

p.H1198H

c.3594C>T

1 paper

NM_002291.3

p.I1246T

c.3737T>C