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.A3197T

c.9589G>A

Surrounding Variants

1 paper

NM_005560.6

p.D3198A

c.9593A>C

1 paper

NM_005560.6

p.L3185I

c.9553C>A

1 paper

NM_005560.6

p.R3180C

c.9538C>T

1 paper

NM_005560.6

p.G3179S

c.9535G>A

2 papers

NM_005560.6

p.Q3178E

c.9532C>G

1 paper

NM_005560.6

p.V3217V

c.9651C>T

1 paper

NM_005560.6

p.D3218N

c.9652G>A

1 paper

NM_005560.6

p.D3218A

c.9653A>C

1 paper

NM_005560.6

p.D3219A

c.9656A>C

1 paper

NM_005560.6

p.Q3222L

c.9665A>T

1 paper

NM_005560.6

p.A3166P

c.9496G>C

1 paper

NM_005560.6

p.K3225*

c.9673A>T