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

4 papers

NM_002291.3

p.I1620T

c.4859T>C

Surrounding Variants

1 paper

NM_002291.3

p.Q1624fs

c.4870_4871fs

1 paper

NM_002291.3

p.Q1624delFs

c.4870delG

1 paper

NM_002291.3

p.L1626R

c.4877T>G

1 paper

NM_002291.3

p.S1629_I1630Splc

c.4887+1G>C

3 papers

NM_002291.3

p.E1597D

c.4791A>T

3 papers

NM_002291.3

p.E1597D

c.4791A>C

2 papers

NM_002291.3

p.M1594T

c.4781T>C

1 paper

NM_002291.3

p.V1590F

c.4768G>T

1 paper

NM_002291.3

p.K1589T

c.4766A>C

1 paper

NM_002291.3

p.K1589E

c.4765A>G

2 papers

NM_002291.3

p.T1586S

c.4756A>T

1 paper

NM_002291.3

p.K1579T

c.4736A>C