Varaico: Literature-Extracted Genetic Variants

Gene:LAMA4
Variant:p.I318N

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.I318N
c.953T>A
Surrounding Variants
1 paper
NM_001105206.3
p.I318M
c.954C>G
1 paper
NM_001105206.3
p.T317S
c.950C>G
1 paper
NM_001105206.3
p.T317S
c.949A>T
1 paper
NM_001105206.3
p.S303_G304ins4
c.907_911ins12
1 paper
NM_001105206.3
p.I291M
c.873C>G
2 papers
NM_001105206.3
p.A288G
c.863C>G
1 paper
NM_001105206.3
p.A288insFs
c.863_864insAC
1 paper
NM_001105206.3
p.D283delins
c.848_849delinsAC
1 paper
NM_001105206.3
p.T281S
c.842C>G
1 paper
NM_001105206.3
p.C276Fs
c.827_828delinsAFs
3 papers
NM_001105206.3
p.C276delins
c.827_828delinsAC
1 paper
NM_001105206.3
p.C268R
c.802T>C
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