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

3 papers

NM_002291.3

p.T159S

c.476C>G

Surrounding Variants

2 papers

NM_002291.3

p.T159S

c.475A>T

1 paper

NM_002291.3

p.V162A

c.485T>C

1 paper

NM_002291.3

p.S154S

c.462C>T

1 paper

NM_002291.3

p.S154_D155insFs

c.462_463insT

1 paper

NM_002291.3

p.A167T

c.499G>A

1 paper

NM_002291.3

p.E171G

c.512A>G

1 paper

NM_002291.3

p.A172T

c.514G>A

1 paper

NM_002291.3

p.S173L

c.518C>T

1 paper

NM_002291.3

p.F174S

c.521T>C

1 paper

NM_002291.3

p.R144P

c.431G>C

2 papers

NM_002291.3

p.R144C

c.430C>T

1 paper

NM_002291.3

p.S178T

c.532T>A