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.A3695delFs

c.11084_11085delGG

Surrounding Variants

1 paper

NM_005560.6

p.A3695fs

c.11083_11084fs

1 paper

NM_005560.6

p.S3690delFs

c.11070delA

1 paper

NM_005560.6

p.S3690fs

c.11068_11069fs

2 papers

NM_005560.6

p.G3688E

c.11063G>A

1 paper

NM_005560.6

p.V3687M

c.11059G>A

7 papers

NM_005560.6

p.G3685R

c.11053G>C

7 papers

NM_005560.6

p.G3685R

c.11053G>A

1 paper

NM_005560.6

p.R3672W

c.11014C>T

1 paper

NM_005560.6

p.M3652K

c.10955T>A

1 paper

NM_005560.6

p.Y3644*

c.10932C>G

1 paper

NM_005560.6

p.Y3644*

c.10932C>A

1 paper

NM_005560.6

p.R3618W

c.10852C>T