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.L2085*

c.6254T>A

Surrounding Variants

2 papers

NM_005559.4

p.K2086T

c.6257A>C

2 papers

NM_005559.4

p.R2084W

c.6250C>T

1 paper

NM_005559.4

p.L2091_E2092ins6

c.6271_6275ins18

5 papers

NM_005559.4

p.I2076T

c.6227T>C

1 paper

NM_005559.4

p.E2101K

c.6301G>A

1 paper

NM_005559.4

p.T2064fs

c.6190_6191fs

1 paper

NM_005559.4

p.A2109D

c.6326C>A

1 paper

NM_005559.4

p.Q2108_R2110del3

c.6322_6329del9

1 paper

NM_005559.4

p.K2111insFs

c.6333dupA

1 paper

NM_005559.4

p.Q2112fs

c.6334_6335fs

1 paper

NM_005559.4

p.A2114T

c.6340G>A

6 papers

NM_005559.4

p.S2115_I2116Splc

c.6345+3G>C