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.Q2020*

c.6058C>T

Surrounding Variants

3 papers

NM_005559.4

p.T2025M

c.6074C>T

2 papers

NM_005559.4

p.K2012I

c.6035A>T

1 paper

NM_005559.4

p.A2030E

c.6089C>A

1 paper

NM_005559.4

p.K2007R

c.6020A>G

4 papers

NM_005559.4

p.R2051*

c.6151C>T

1 paper

NM_005559.4

p.T2049_L2050del2

c.6145_6149del6

1 paper

NM_005559.4

p.R2051Q

c.6152G>A

1 paper

NM_005559.4

p.E2052A

c.6155A>C

1 paper

NM_005559.4

p.A2063A

c.6189C>G

1 paper

NM_005559.4

p.T2064fs

c.6190_6191fs

5 papers

NM_005559.4

p.I2076T

c.6227T>C

2 papers

NM_005559.4

p.R2084W

c.6250C>T