Varaico: Literature-Extracted Genetic Variants

Gene:LAD1
Variant:p.R28C

LAD1

116 papers

RefSeq Summary

The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underly...

Gene Aliases

HGNC Name

ladinin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005558.4
p.R28C
c.82C>T
Surrounding Variants
1 paper
NM_005558.4
p.R28R
c.84C>T
1 paper
NM_005558.4
p.R33W
c.97C>T
1 paper
NM_005558.4
p.D22A
c.65A>C
1 paper
NM_005558.4
p.T19S
c.56C>G
1 paper
NM_005558.4
p.T19S
c.55A>T
1 paper
NM_005558.4
p.S39F
c.116C>T
1 paper
NM_005558.4
p.T41delFs
c.122delG
1 paper
NM_005558.4
p.P46L
c.137C>T
1 paper
NM_005558.4
p.D53H
c.157G>C
1 paper
NM_005558.4
p.R54_Q55delFs
c.162_163delGC
3 papers
NM_005558.4
p.A56S
c.166G>T
1 paper
NM_005558.4
p.L62L
c.186A>G
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