Varaico: Literature-Extracted Genetic Variants

LAMA4

233 papers

RefSeq Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including ...

Pfam Domains

EGF_LMN_ATRNaa 82–129UCSCLaminin/attractin EGF domain

EGF_lamininaa 132–184UCSCLaminin EGF domain

EGF_lamininaa 187–243UCSCLaminin EGF domain

Laminin_Iaa 291–548UCSCLaminin Domain I

Laminin_IIaa 727–854UCSCLaminin Domain II

Laminin_G_2aa 867–1007UCSCLaminin G domain

Gene Aliases

HGNC Name

laminin subunit alpha 4

HGNC Previous Name

laminin, alpha 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001105206.3

p.L1266V

c.3796T>G

Surrounding Variants

1 paper

NM_001105206.3

p.N1269S

c.3806A>G

1 paper

NM_001105206.3

p.L1271_L1272insFs

c.3813_3814insGA

1 paper

NM_001105206.3

p.L1272insFs

c.3814_3815insGA

1 paper

NM_001105206.3

p.G1278_S1279insFs

c.3834_3835insGA

1 paper

NM_001105206.3

p.I1248V

c.3742A>G

1 paper

NM_001105206.3

p.I1233K

c.3698T>A

1 paper

NM_001105206.3

p.L1232_I1233Splc

c.3697-47A>C

1 paper

NM_001105206.3

p.E1216Q

c.3646G>C

1 paper

NM_001105206.3

p.L1214V

c.3640T>G

1 paper

NM_001105206.3

p.Q1206delFs

c.3617delT

1 paper

NM_001105206.3

p.Q1206R

c.3617A>G

2 papers

NM_002290.5

p.F1198Y

c.3593T>A