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

2 papers

NM_005559.4

p.R162C

c.484C>T

Surrounding Variants

1 paper

NM_005559.4

p.R162G

c.484C>G

1 paper

NM_005559.4

p.R162H

c.485G>A

1 paper

NM_005559.4

p.S161F

c.482C>T

1 paper

NM_005559.4

p.S161P

c.481T>C

1 paper

NM_005559.4

p.L160V

c.478T>G

1 paper

NM_005559.4

p.E158delFs

c.473_474delCT

1 paper

NM_005559.4

p.E158fs

c.472_473fs

1 paper

NM_005559.4

p.I165fs

c.493_494fs

1 paper

NM_005559.4

p.I165delFs

c.494delA

1 paper

NM_005559.4

p.E158K

c.472G>A

5 papers

NM_005559.4

p.S157*

c.470C>G

3 papers

NM_005559.4

p.S157*

c.470C>A