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

9 papers

NM_005559.4

p.R2295C

c.6883C>T

Surrounding Variants

1 paper

NM_005559.4

p.R2295H

c.6884G>A

1 paper

NM_005559.4

p.W2285*

c.6855G>A

1 paper

NM_005559.4

p.W2285*

c.6854G>A

2 papers

NM_005559.4

p.L2284L

c.6850C>T

1 paper

NM_005559.4

p.I2282T

c.6845T>C

1 paper

NM_005559.4

p.A2262_F2268del7

c.6784_6803del21

1 paper

NM_005559.4

p.A2262_F2268del0

c.6785_6802del18

1 paper

NM_005559.4

p.H2267H

c.6801T>C

1 paper

NM_005559.4

p.V2263L

c.6787G>T

1 paper

NM_005559.4

p.V2263L

c.6787G>C

1 paper

NM_005559.4

p.S2260Y

c.6779C>A

1 paper

NM_005559.4

p.K2258K

c.6774G>A