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.C1404S

c.4211G>C

Surrounding Variants

1 paper

NM_005560.6

p.C1404S

c.4210T>A

6 papers

NM_005560.6

p.A1405T

c.4213G>A

1 paper

NM_005560.6

p.S1402C

c.4204A>T

1 paper

NM_005560.6

p.Q1407*

c.4219C>T

1 paper

NM_005560.6

p.F1400F

c.4200C>T

1 paper

NM_005560.6

p.S1397T

c.4189T>A

1 paper

NM_005560.6

p.L1394L

c.4182G>A

1 paper

NM_005560.6

p.V1383I

c.4147G>A

1 paper

NM_005560.6

p.N1382K

c.4146C>G

1 paper

NM_005560.6

p.N1382K

c.4146C>A

1 paper

NM_005560.6

p.F1419F

c.4257C>T

1 paper

NM_005560.6

p.A1423T

c.4267G>A