Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.A20_G24delFs

LAMB3

498 papers

RefSeq Summary

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms la...

Pfam Domains

Laminin_Naa 26–248UCSCLaminin N-terminal (Domain VI)
EGF_lamininaa 250–313UCSCLaminin EGF domain
EGF_LMN_ATRNaa 316–371UCSCLaminin/attractin EGF domain
EGF_lamininaa 379–428UCSCLaminin EGF domain
EGF_lamininaa 431–478UCSCLaminin EGF domain
EGF_lamininaa 481–531UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 3

HGNC Previous Symbol

LAMNB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000228.3
p.A20_G24delFs
c.58_70del13
Surrounding Variants
1 paper
NM_000228.3
p.G24E
c.71G>A
1 paper
NM_000228.3
p.A20ins1
c.59_60insGTA
1 paper
NM_000228.3
p.V30A
c.89T>C
2 papers
NM_000228.3
p.Q18_Q19insFs
c.54_55insA
1 paper
NM_000228.3
p.Q18H
c.54A>T
1 paper
NM_000228.3
p.Q18H
c.54A>C
1 paper
NM_000228.3
p.Q18delins
c.53delinsA
1 paper
NM_000228.3
p.D32delins
c.94delinsA
1 paper
NM_000228.3
p.G31insFs
c.92_93insG
1 paper
NM_000228.3
p.G31delFs
c.92delC
2 papers
NM_000228.3
p.L34F
c.100C>T
1 paper
NM_000228.3
p.V35I
c.103G>A
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