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

1–12 of 519 variants

24 papers

NM_002292.4

p.R246Q

c.737G>A

19 papers

NM_002292.4

p.C321R

c.961T>C

17 papers

NM_002292.4

p.R246W

c.736C>T

13 papers

NM_002292.4

p.S80R

c.238A>C

13 papers

NM_002292.4

p.S80R

c.240T>G

13 papers

NM_002292.4

p.S80R

c.240T>A

13 papers

NM_002292.4

p.Q1728*

c.5182C>T

11 papers

NM_002292.4

p.R469Splc

c.1405+1G>A

10 papers

NM_002292.4

p.Q1507*

c.4519C>T

9 papers

NM_002292.4

p.D167Y

c.499G>T

9 papers

NM_002292.4

p.S179F

c.536C>T

9 papers

NM_002292.4

p.C324R

c.970T>C