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.L2979L

c.8937C>T

Surrounding Variants

1 paper

NM_005560.6

p.R2953H

c.8858G>A

6 papers

NM_005560.6

p.G2948S

c.8842G>A

1 paper

NM_005560.6

p.D2947D

c.8841C>T

1 paper

NM_005560.6

p.G2996R

c.8986G>C

1 paper

NM_005560.6

p.Y3002insFs

c.9006dupT

1 paper

NM_005560.6

p.V3012I

c.9034G>A

1 paper

NM_005560.6

p.P3018L

c.9053C>T

1 paper

NM_005560.6

p.C2929Y

c.8786G>A

2 papers

NM_005560.6

p.T2923M

c.8768C>T

1 paper

NM_005560.6

p.L2921R

c.8762T>G

1 paper

NM_005560.6

p.L2905V

c.8713C>G

1 paper

NM_005560.6

p.G2895S

c.8683G>A