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

1–12 of 348 variants

8 papers

NM_002291.3

p.I1547T

c.4640T>C

6 papers

NM_002291.3

p.R795G

c.2383C>G

6 papers

NM_002291.3

p.G860S

c.2578G>A

5 papers

NM_002291.3

p.Q1022R

c.3065A>G

4 papers

NM_002291.3

p.C460R

c.1378T>C

4 papers

NM_002291.3

p.S703fs

c.2107_2108fs

4 papers

NM_002291.3

p.D957N

c.2869G>A

4 papers

NM_002291.3

p.K1049fs

c.3145_3146fs

4 papers

NM_002291.3

p.C1182Y

c.3545G>A

4 papers

NM_002291.3

p.I1620T

c.4859T>C

3 papers

NM_002291.3

p.T159S

c.476C>G

3 papers

NM_002291.3

p.C481F

c.1442G>T