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.N243S

c.728A>G

Surrounding Variants

1 paper

NM_005560.6

p.G240D

c.719G>A

1 paper

NM_005560.6

p.P239P

c.717G>A

1 paper

NM_005560.6

p.N258S

c.773A>G

1 paper

NM_005560.6

p.R262H

c.785G>A

1 paper

NM_005560.6

p.T266A

c.796A>G

1 paper

NM_005560.6

p.G271fs

c.811_812fs

1 paper

NM_005560.6

p.P281P

c.843C>T

1 paper

NM_005560.6

p.V283L

c.847G>C

8 papers

NM_005560.6

p.R286L

c.857G>T

1 paper

NM_005560.6

p.R221H

c.662G>A

1 paper

NM_005560.6

p.I207_C215del9

c.619_644del27

1 paper

NM_005560.6

p.A213V

c.638C>T