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

1–12 of 606 variants

8 papers

NM_005560.6

p.R286L

c.857G>T

7 papers

NM_005560.6

p.R2659W

c.7975C>T

7 papers

NM_005560.6

p.R3079W

c.9235C>T

7 papers

NM_005560.6

p.G3685R

c.11053G>C

7 papers

NM_005560.6

p.G3685R

c.11053G>A

6 papers

NM_005560.6

p.R747W

c.2239C>T

6 papers

NM_005560.6

p.A1405T

c.4213G>A

6 papers

NM_005560.6

p.H1717Y

c.5149C>T

6 papers

NM_005560.6

p.V1900M

c.5698G>A

6 papers

NM_005560.6

p.A1908T

c.5722G>A

6 papers

NM_005560.6

p.G2948S

c.8842G>A

5 papers

NM_005560.6

p.E1001G

c.3002A>G