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.H384R

c.1151A>G

Surrounding Variants

1 paper

NM_002291.3

p.P379S

c.1135C>T

1 paper

NM_002291.3

p.C395G

c.1183T>G

1 paper

NM_002291.3

p.T369_M370delFs

c.1106_1110del5

1 paper

NM_002291.3

p.D363fs

c.1087_1088fs

1 paper

NM_002291.3

p.D363insFs

c.1087_1088insTG

1 paper

NM_002291.3

p.V350I

c.1048G>A

1 paper

NM_002291.3

p.S343T

c.1027T>A

1 paper

NM_002291.3

p.C411F

c.1232G>T

1 paper

NM_002291.3

p.N431delFs

c.1293delA

1 paper

NM_002291.3

p.E433A

c.1298A>C

4 papers

NM_002291.3

p.C460R

c.1378T>C

1 paper

NM_002291.3

p.G464insFs

c.1390_1391insA