Varaico: Literature-Extracted Genetic Variants

Gene:MESD
Variant:p.E130del1

MESD

34 papers

Pfam Domains

Mesdaa 52–210UCSCChaperone for wingless signalling and trafficking of LDL receptor

Gene Aliases

HGNC Name

mesoderm development LRP chaperone

HGNC Previous Symbol

MESDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015154.3
p.E130del1
c.388_389delCTC
Surrounding Variants
1 paper
NM_015154.3
p.L140F
c.418C>T
1 paper
NM_015154.3
p.K110insFs
c.330dupA
1 paper
NM_015154.3
p.D97H
c.289G>C
2 papers
NM_015154.3
p.A89delFs
c.265delC
2 papers
NM_015154.3
p.A89fs
c.265_266fs
1 paper
NM_015154.3
p.K72*
c.214A>T
1 paper
NM_015154.3
p.D163N
c.487G>A
1 paper
NM_015154.3
p.K171fs
c.511_512fs
1 paper
NM_015154.3
p.I170delFs
c.510delG
1 paper
NM_015154.3
p.D172Y
c.514G>T
2 papers
NM_015154.3
p.N201fs
c.601_602fs
3 papers
NM_015154.3
p.T203fs
c.607_608fs
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