Varaico: Literature-Extracted Genetic Variants

Gene:LAMA4
Variant:p.L1089P

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.L1089P
c.3266T>C
Surrounding Variants
1 paper
NM_001105206.3
p.D1084N
c.3250G>A
2 papers
NM_001105206.3
p.P1082L
c.3245C>T
2 papers
NM_001105206.3
p.T1081T
c.3243A>G
6 papers
NM_001105206.3
p.R1080Q
c.3239G>A
NM_002290.5
p.R1073Q
c.3218G>A
1 paper
NM_002290.5
p.R1073*
c.3217C>T
1 paper
NM_001105206.3
p.I1077T
c.3230T>C
1 paper
NM_001105206.3
p.V1059M
c.3175G>A
1 paper
NM_001105206.3
p.D1053G
c.3158A>G
1 paper
NM_001105206.3
p.R1046Q
c.3137G>A
2 papers
NM_001105206.3
p.R1037Q
c.3110G>A
1 paper
NM_001105206.3
p.R1037Q
c.3110G>A
1 paper
NM_001105206.3
p.L1011F
c.3033G>T
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