Varaico: Literature-Extracted Genetic Variants

LAMB2

371 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 47–281UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 283–344UCSCLaminin EGF domain

EGF_LMN_ATRNaa 347–402UCSCLaminin/attractin EGF domain

EGF_lamininaa 410–467UCSCLaminin EGF domain

EGF_lamininaa 470–519UCSCLaminin EGF domain

EGF_lamininaa 522–565UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 2

HGNC Previous Symbol

LAMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

13 papers

NM_002292.4

p.Q1728*

c.5182C>T

Surrounding Variants

3 papers

NM_002292.4

p.Q1733*

c.5197C>T

1 paper

NM_002292.4

p.K1720_A1721delFs

c.5158_5162del5

1 paper

NM_002292.4

p.R1735Q

c.5204G>A

1 paper

NM_002292.4

p.K1720fs

c.5158_5159fs

1 paper

NM_002292.4

p.R1719C

c.5155C>T

1 paper

NM_002292.4

p.T1712_A1717delFs

c.5135_5151del17

1 paper

NM_002292.4

p.K1714K

c.5142G>A

1 paper

NM_002292.4

p.T1712fs

c.5134_5135fs

1 paper

NM_002292.4

p.T1712M

c.5135C>T

1 paper

NM_002292.4

p.A1745T

c.5233G>A

1 paper

NM_002292.4

p.A1745D

c.5234C>A

1 paper

NM_002292.4

p.D1747fs

c.5239_5240fs