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

1–12 of 768 variants

9 papers

NM_005559.4

p.R2295C

c.6883C>T

8 papers

NM_005559.4

p.Y185*

c.555T>G

8 papers

NM_005559.4

p.R256_Y257Splc

c.768+1G>A

8 papers

NM_005559.4

p.N674T

c.2021A>C

7 papers

NM_005559.4

p.E196_I197Splc

c.588+2T>G

7 papers

NM_005559.4

p.R222*

c.664C>T

7 papers

NM_005559.4

p.Y939delFs

c.2816_2817delAT

7 papers

NM_005559.4

p.M1340V

c.4018A>G

7 papers

NM_005559.4

p.S1577A

c.4729T>G

7 papers

NM_005559.4

p.I1659V

c.4975A>G

7 papers

NM_005559.4

p.A1876T

c.5626G>A

7 papers

NM_005559.4

p.K2002E

c.6004A>G