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.E1038D

c.3114G>T

Surrounding Variants

1 paper

NM_002291.3

p.E1038D

c.3114G>C

1 paper

NM_002291.3

p.C1040F

c.3119G>T

1 paper

NM_002291.3

p.G1042S

c.3124G>A

1 paper

NM_002291.3

p.Q1046R

c.3137A>G

1 paper

NM_002291.3

p.C1028_V1029delFs

c.3083_3086del4

4 papers

NM_002291.3

p.K1049fs

c.3145_3146fs

1 paper

NM_002291.3

p.G1062delFs

c.3186delC

1 paper

NM_002291.3

p.Q1063fs

c.3187_3188fs

1 paper

NM_002291.3

p.C1065S

c.3193T>A

1 paper

NM_002291.3

p.C1065S

c.3194G>C

1 paper

NM_002291.3

p.R1067C

c.3199C>T

1 paper

NM_002291.3

p.A1069V

c.3206C>T