Varaico: Literature-Extracted Genetic Variants

LAMA5

377 papers

RefSeq Summary

This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been i...

Pfam Domains

Laminin_Naa 45–298UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 300–356UCSCLaminin EGF domain

EGF_LMN_ATRNaa 359–420UCSCLaminin/attractin EGF domain

EGF_lamininaa 429–477UCSCLaminin EGF domain

EGF_lamininaa 494–539UCSCLaminin EGF domain

EGF_lamininaa 541–585UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit alpha 5

HGNC Previous Name

laminin, alpha 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005560.6

p.A736V

c.2207C>T

Surrounding Variants

1 paper

NM_005560.6

p.A731G

c.2192C>G

1 paper

NM_005560.6

p.G729S

c.2185G>A

1 paper

NM_005560.6

p.C725C

c.2175C>T

1 paper

NM_005560.6

p.Q741R

c.2222A>G

1 paper

NM_005560.6

p.C744R

c.2230T>C

1 paper

NM_005560.6

p.C746C

c.2238C>T

6 papers

NM_005560.6

p.R747W

c.2239C>T

4 papers

NM_005560.6

p.V750M

c.2248G>A

1 paper

NM_005560.6

p.S754delFs

c.2260delT

1 paper

NM_005560.6

p.C758S

c.2273G>C

2 papers

NM_005560.6

p.F762C

c.2285T>G

4 papers

NM_005560.6

p.T774I

c.2321C>T