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.E433A

c.1298A>C

Surrounding Variants

1 paper

NM_002291.3

p.N431delFs

c.1293delA

1 paper

NM_002291.3

p.C411F

c.1232G>T

4 papers

NM_002291.3

p.C460R

c.1378T>C

1 paper

NM_002291.3

p.G464insFs

c.1390_1391insA

1 paper

NM_002291.3

p.G469G

c.1407G>A

1 paper

NM_002291.3

p.N470D

c.1408A>G

1 paper

NM_002291.3

p.E475V

c.1424A>T

3 papers

NM_002291.3

p.C481F

c.1442G>T

3 papers

NM_002291.3

p.R483C

c.1447C>T

1 paper

NM_002291.3

p.T486S

c.1456A>T

1 paper

NM_002291.3

p.D491Y

c.1471G>T

1 paper

NM_002291.3

p.Q492H

c.1476G>C