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.K2002E

c.6004A>G

Surrounding Variants

4 papers

NM_005559.4

p.L1995_L1997delFs

c.5985_5991del7

4 papers

NM_005559.4

p.I1996fs

c.5986_5987fs

1 paper

NM_005559.4

p.T1987I

c.5960C>T

1 paper

NM_005559.4

p.A1983V

c.5948C>T

1 paper

NM_005559.4

p.E1981K

c.5941G>A

1 paper

NM_005559.4

p.G1964C

c.5890G>T

1 paper

NM_005559.4

p.G1964C

c.5890G>T

3 papers

NM_005559.4

p.N1956S

c.5867A>G

1 paper

NM_005559.4

p.A1943V

c.5828C>T

1 paper

NM_005559.4

p.K2007R

c.6020A>G

2 papers

NM_005559.4

p.K2012I

c.6035A>T

1 paper

NM_005559.4

p.Q2020*

c.6058C>T