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

7 papers

NM_005559.4

p.R222*

c.664C>T

Surrounding Variants

6 papers

NM_005559.4

p.R225H

c.674G>A

1 paper

NM_005559.4

p.E217Q

c.649G>C

1 paper

NM_005559.4

p.R227C

c.679C>T

1 paper

NM_005559.4

p.L228S

c.683T>C

1 paper

NM_005559.4

p.R230C

c.688C>T

2 papers

NM_005559.4

p.R230H

c.689G>A

1 paper

NM_005559.4

p.P213P

c.639C>T

1 paper

NM_005559.4

p.L226_R230del5

c.676_689del15

1 paper

NM_005559.4

p.R230_I231del2

c.688_692del6

1 paper

NM_005559.4

p.L211R

c.632T>G

1 paper

NM_005559.4

p.T233K

c.698C>A

3 papers

NM_005559.4

p.D210N

c.628G>A