Varaico: Literature-Extracted Genetic Variants

LAMA3

383 papers

RefSeq Summary

The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coil...

Pfam Domains

Laminin_Naa 47–297UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 356–423UCSCLaminin EGF domain

EGF_lamininaa 426–469UCSCLaminin EGF domain

EGF_lamininaa 491–535UCSCLaminin EGF domain

EGF_lamininaa 536–586UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit alpha 3

HGNC Previous Symbol

LAMNA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_198129.4

p.V1206A

c.3617T>C

Surrounding Variants

8 papers

NM_198129.4

p.P1208T

c.3622C>A

1 paper

NM_198129.4

p.N1211K

c.3633C>A

1 paper

NM_198129.4

p.N1211K

c.3633C>G

1 paper

NM_198129.4

p.Y1214delFs

c.3642delC

1 paper

NM_198129.4

p.Q1215fs

c.3643_3644fs

1 paper

NM_198129.4

p.I1216T

c.3647T>C

1 paper

NM_198129.4

p.L1226F

c.3676C>T

1 paper

NM_198129.4

p.S1236R

c.3706A>C

1 paper

NM_198129.4

p.S1236R

c.3708C>A

2 papers

NM_198129.4

p.Y1238insFs

c.3712dupT

1 paper

NM_198129.4

p.S1236R

c.3708C>G

1 paper

NM_198129.4

p.Y1238fs

c.3712_3713fs