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

7 papers

NM_002290.5

p.Y491H

c.1471T>C

NM_001105206.3

p.Y498H

c.1492T>C

Surrounding Variants

1 paper

NM_001105206.3

p.R500K

c.1499G>A

1 paper

NM_001105206.3

p.D493Y

c.1477G>T

1 paper

NM_001105206.3

p.E503K

c.1507G>A

4 papers

NM_001105206.3

p.L492H

c.1475T>A

1 paper

NM_001105206.3

p.D504D

c.1512C>T

1 paper

NM_001105206.3

p.E490V

c.1469A>T

1 paper

NM_001105206.3

p.E490K

c.1468G>A

1 paper

NM_001105206.3

p.R507W

c.1519A>T

1 paper

NM_001105206.3

p.R507K

c.1520G>A

1 paper

NM_001105206.3

p.L485F

c.1455G>T

1 paper

NM_001105206.3

p.L485F

c.1455G>C

3 papers

NM_001105206.3

p.L485*

c.1454T>A