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.R1759C

c.5275C>T

Surrounding Variants

1 paper

NM_005560.6

p.V1757I

c.5269G>A

1 paper

NM_005560.6

p.V1765V

c.5295G>A

1 paper

NM_005560.6

p.V1735L

c.5203G>T

1 paper

NM_005560.6

p.V1735L

c.5203G>C

1 paper

NM_005560.6

p.V1735M

c.5203G>A

1 paper

NM_005560.6

p.V1727I

c.5179G>A

6 papers

NM_005560.6

p.H1717Y

c.5149C>T

1 paper

NM_005560.6

p.L1716R

c.5147T>G

1 paper

NM_005560.6

p.L1712L

c.5136C>T

1 paper

NM_005560.6

p.Y1708Y

c.5124C>T

1 paper

NM_005560.6

p.Y1708*

c.5124C>G

1 paper

NM_005560.6

p.Y1708*

c.5124C>A