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.A3113V

c.9338C>T

Surrounding Variants

1 paper

NM_005560.6

p.A3096V

c.9287C>T

2 papers

NM_005560.6

p.R3088H

c.9263G>A

1 paper

NM_005560.6

p.R3088C

c.9262C>T

7 papers

NM_005560.6

p.R3079W

c.9235C>T

4 papers

NM_005560.6

p.R3078*

c.9232C>T

1 paper

NM_005560.6

p.R3123C

c.9367C>T

1 paper

NM_005560.6

p.T3126I

c.9377C>T

2 papers

NM_005560.6

p.H3130Y

c.9388C>T

1 paper

NM_005560.6

p.H3130H

c.9390C>T

1 paper

NM_005560.6

p.R3134C

c.9400C>T

2 papers

NM_005560.6

p.A3136V

c.9407C>T

5 papers

NM_005560.6

p.V3140M

c.9418G>A