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.V847I

c.2539G>A

Surrounding Variants

1 paper

NM_005560.6

p.R849W

c.2545C>T

2 papers

NM_005560.6

p.A836V

c.2507C>T

1 paper

NM_005560.6

p.G834_G835insFs

c.2502_2503insA

1 paper

NM_005560.6

p.S860R

c.2578A>C

1 paper

NM_005560.6

p.R830Q

c.2489G>A

1 paper

NM_005560.6

p.R830W

c.2488C>T

1 paper

NM_005560.6

p.E861*

c.2581G>T

1 paper

NM_005560.6

p.Y867Y

c.2601C>T

1 paper

NM_005560.6

p.L868fs

c.2602_2603fs

1 paper

NM_005560.6

p.L868delFs

c.2603_2604delGA

1 paper

NM_005560.6

p.P869L

c.2606C>T

2 papers

NM_005560.6

p.R875C

c.2623C>T