Varaico: Literature-Extracted Genetic Variants

Gene:APCDD1
Variant:p.S340Y

APCDD1

78 papers

RefSeq Summary

This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associat...

Pfam Domains

APCDDCaa 51–282UCSCAdenomatosis polyposis coli down-regulated 1
APCDDCaa 284–473UCSCAdenomatosis polyposis coli down-regulated 1

Gene Aliases

HGNC Name

APC down-regulated 1

HGNC Alias Symbol

B7323

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153000.5
p.S340Y
c.1019C>A
Surrounding Variants
1 paper
NM_153000.5
p.S340F
c.1019C>T
2 papers
NM_153000.5
p.A343T
c.1027G>A
1 paper
NM_153000.5
p.R349H
c.1046G>A
1 paper
NM_153000.5
p.G350S
c.1048G>A
1 paper
NM_153000.5
p.V351I
c.1051G>A
1 paper
NM_153000.5
p.H328Y
c.982C>T
1 paper
NM_153000.5
p.F364L
c.1090T>C
1 paper
NM_153000.5
p.F364L
c.1092C>A
1 paper
NM_153000.5
p.F364L
c.1092C>G
1 paper
NM_153000.5
p.H312Y
c.934C>T
1 paper
NM_153000.5
p.L307del1
c.919_921delCTC
1 paper
NM_153000.5
p.R303H
c.908G>A
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