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

3 papers

NM_001105206.3

p.Y174C

c.521A>G

Surrounding Variants

2 papers

NM_001105206.3

p.N176I

c.527A>T

2 papers

NM_001105206.3

p.R168K

c.503G>A

1 paper

NM_001105206.3

p.T183A

c.547A>G

2 papers

NM_001105206.3

p.G191E

c.572G>A

1 paper

NM_001105206.3

p.S193L

c.578C>T

1 paper

NM_001105206.3

p.D194G

c.581A>G

2 papers

NM_001105206.3

p.L197P

c.590T>C

1 paper

NM_001105206.3

p.V205V

c.615C>T

2 papers

NM_001105206.3

p.R214C

c.640C>T

1 paper

NM_001105206.3

p.R214H

c.641G>A

2 papers

NM_001105206.3

p.T217T

c.651C>T

1 paper

NM_001105206.3

p.G218R

c.652G>C