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.Q1707P

c.5120A>C

Surrounding Variants

1 paper

NM_005559.4

p.Q1713K

c.5137C>A

3 papers

NM_005559.4

p.F1711_T1712del2

c.5131_5135del6

1 paper

NM_005559.4

p.S1701F

c.5102C>T

1 paper

NM_005559.4

p.N1717delFs

c.5150delT

1 paper

NM_005559.4

p.E1721V

c.5162A>T

1 paper

NM_005559.4

p.T1676_E1683del8

c.5026_5048del24

2 papers

NM_005559.4

p.D1682V

c.5045A>T

1 paper

NM_005559.4

p.T1669A

c.5005A>G

7 papers

NM_005559.4

p.I1659V

c.4975A>G

1 paper

NM_005559.4

p.A1658V

c.4973C>T

1 paper

NM_005559.4

p.D1627G

c.4880A>G

1 paper

NM_005559.4

p.E1625Q

c.4873G>C