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.R1992H

c.5975G>A

Surrounding Variants

1 paper

NM_005560.6

p.L1987delFs

c.5959_5960delAG

1 paper

NM_005560.6

p.T1999A

c.5995A>G

1 paper

NM_005560.6

p.G1954R

c.5860G>A

1 paper

NM_005560.6

p.A1946V

c.5837C>T

2 papers

NM_005560.6

p.R1931Q

c.5792G>A

1 paper

NM_005560.6

p.G1927D

c.5780G>A

1 paper

NM_005560.6

p.A1925T

c.5773G>A

6 papers

NM_005560.6

p.A1908T

c.5722G>A

1 paper

NM_005560.6

p.P1906P

c.5718C>A

1 paper

NM_005560.6

p.D1905N

c.5713G>A

1 paper

NM_005560.6

p.R1903K

c.5708G>A

6 papers

NM_005560.6

p.V1900M

c.5698G>A