Varaico: Literature-Extracted Genetic Variants

Gene:LAMA4
Variant:p.G218R

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.G218R
c.652G>C
Surrounding Variants
1 paper
NM_001105206.3
p.G218R
c.652G>A
2 papers
NM_001105206.3
p.T217T
c.651C>T
1 paper
NM_001105206.3
p.K220insFs
c.659dupA
1 paper
NM_001105206.3
p.R214H
c.641G>A
2 papers
NM_001105206.3
p.R214C
c.640C>T
1 paper
NM_001105206.3
p.R223H
c.668G>A
4 papers
NM_001105206.3
p.A225P
c.673G>C
1 paper
NM_001105206.3
p.A225T
c.673G>A
1 paper
NM_001105206.3
p.A225V
c.674C>T
1 paper
NM_001105206.3
p.V205V
c.615C>T
1 paper
NM_001105206.3
p.D231V
c.692A>T
1 paper
NM_001105206.3
p.I234R
c.701T>G
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