Varaico: Literature-Extracted Genetic Variants

Gene:LAMA4
Variant:p.S1806C

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.S1806C
c.5416A>T
Surrounding Variants
4 papers
NM_001105206.3
p.A1808T
c.5422G>A
1 paper
NM_001105206.3
p.A1808_A1809insFs
c.5424_5425insT
1 paper
NM_001105206.3
p.S1812R
c.5434A>C
1 paper
NM_001105206.3
p.S1812R
c.5436C>G
1 paper
NM_001105206.3
p.S1812R
c.5436C>A
1 paper
NM_001105206.3
p.G1813S
c.5437G>A
1 paper
NM_001105206.3
p.A1814T
c.5440G>A
6 papers
NM_001105206.3
p.V1815I
c.5443G>A
NM_002290.5
p.V1808I
c.5422G>A
1 paper
NM_001105206.3
p.V1815insFs
c.5444dupT
1 paper
NM_001105206.3
p.I1817T
c.5450T>C
1 paper
NM_001105206.3
p.P1788S
c.5362C>T
1 paper
NM_002290.5
p.S1779delFs
c.5336delC
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