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

1–12 of 336 variants

11 papers

NM_001105206.3

p.P1119R

c.3356C>G

6 papers

NM_001105206.3

p.Y498H

c.1492T>C

6 papers

NM_001105206.3

p.G1117S

c.3349G>A

5 papers

NM_001105206.3

p.R1080Q

c.3239G>A

5 papers

NM_001105206.3

p.V1815I

c.5443G>A

4 papers

NM_001105206.3

p.R154W

c.460C>T

4 papers

NM_001105206.3

p.A225P

c.673G>C

4 papers

NM_001105206.3

p.L492H

c.1475T>A

4 papers

NM_001105206.3

p.A1808T

c.5422G>A

3 papers

NM_001105206.3

p.R103G

c.307C>G

3 papers

NM_001105206.3

p.Y174C

c.521A>G

3 papers

NM_001105206.3

p.C276delins

c.827_828delinsAC