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.H1869R

c.5606A>G

Surrounding Variants

2 papers

NM_005560.6

p.R1872H

c.5615G>A

2 papers

NM_005560.6

p.P1875L

c.5624C>T

2 papers

NM_005560.6

p.G1876V

c.5627G>T

2 papers

NM_005560.6

p.R1860Q

c.5579G>A

1 paper

NM_005560.6

p.R1860*

c.5578C>T

1 paper

NM_005560.6

p.R1851R

c.5553G>T

1 paper

NM_005560.6

p.F1849F

c.5547C>T

1 paper

NM_005560.6

p.H1885P

c.5654A>C

1 paper

NM_005560.6

p.H1891Y

c.5671C>T

1 paper

NM_005560.6

p.C1892Y

c.5675G>A

6 papers

NM_005560.6

p.V1900M

c.5698G>A

1 paper

NM_005560.6

p.R1903K

c.5708G>A