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.F128L

c.382T>C

Surrounding Variants

1 paper

NM_001105206.3

p.C132*

c.396C>A

1 paper

NM_001105206.3

p.L136fs

c.406_407fs

1 paper

NM_001105206.3

p.L136delFs

c.406delG

1 paper

NM_001105206.3

p.G119R

c.355G>C

1 paper

NM_001105206.3

p.G119R

c.355G>A

1 paper

NM_001105206.3

p.H138Y

c.412C>T

1 paper

NM_001105206.3

p.H138insFs

c.412dupC

1 paper

NM_001105206.3

p.Y117C

c.350A>G

1 paper

NM_001105206.3

p.D115H

c.343G>C

1 paper

NM_001105206.3

p.E111D

c.333A>T

2 papers

NM_001105206.3

p.R103W

c.307C>T

3 papers

NM_001105206.3

p.R103G

c.307C>G