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.R2718G

c.8152C>G

Surrounding Variants

1 paper

NM_005560.6

p.R2718C

c.8152C>T

1 paper

NM_005560.6

p.R2718R

c.8154C>T

3 papers

NM_005560.6

p.R2720*

c.8158C>T

1 paper

NM_005560.6

p.R2720Q

c.8159G>A

1 paper

NM_005560.6

p.A2714T

c.8140G>A

1 paper

NM_005560.6

p.A2729fs

c.8185_8186fs

1 paper

NM_005560.6

p.A2729delFs

c.8186delG

1 paper

NM_005560.6

p.L2697L

c.8091G>C

1 paper

NM_005560.6

p.P2691S

c.8071C>T

1 paper

NM_005560.6

p.T2689M

c.8066C>T

1 paper

NM_005560.6

p.M2737L

c.8209A>T

1 paper

NM_005560.6

p.M2737L

c.8209A>C