Varaico: Literature-Extracted Genetic Variants

LAMA1

387 papers

RefSeq Summary

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma ch...

Pfam Domains

Laminin_Naa 22–268UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 270–324UCSCLaminin EGF domain

EGF_lamininaa 327–394UCSCLaminin EGF domain

EGF_lamininaa 397–453UCSCLaminin EGF domain

EGF_lamininaa 454–500UCSCLaminin EGF domain

Laminin_Baa 568–707UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit alpha 1

HGNC Previous Name

laminin, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005559.4

p.T240S

c.718A>T

Surrounding Variants

1 paper

NM_005559.4

p.M239R

c.716T>G

1 paper

NM_005559.4

p.L238I

c.712C>A

1 paper

NM_005559.4

p.R244fs

c.730_731fs

1 paper

NM_005559.4

p.N235delFs

c.703_704delTT

1 paper

NM_005559.4

p.E245*

c.733G>T

1 paper

NM_005559.4

p.E245K

c.733G>A

1 paper

NM_005559.4

p.E245V

c.734A>T

1 paper

NM_005559.4

p.T233K

c.698C>A

1 paper

NM_005559.4

p.K247ins2

c.739_740ins6

1 paper

NM_005559.4

p.R230_I231del2

c.688_692del6

1 paper

NM_005559.4

p.E248V

c.743A>T

1 paper

NM_005559.4

p.L226_R230del5

c.676_689del15