Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA3
Variant:p.R18L

PLEKHA3

30 papers

Pfam Domains

PHaa 1–93UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A3

HGNC Alias Symbol

FAPP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019091.4
p.R18L
c.53G>T
Surrounding Variants
1 paper
NM_019091.4
p.W19R
c.55T>A
1 paper
NM_019091.4
p.S43G
c.127A>G
1 paper
NM_019091.4
p.S43N
c.128G>A
1 paper
NM_019091.4
p.E50A
c.149A>C
1 paper
NM_019091.4
p.T9A
c.25A>G
1 paper
NM_019091.4
p.K7E
c.19A>G
1 paper
NM_019091.4
p.P66L
c.197C>T
1 paper
NM_019091.4
p.K74Q
c.220A>C
1 paper
NM_019091.4
p.A87T
c.259G>A
3 papers
NM_019091.4
p.C94S
c.280T>A
3 papers
NM_019091.4
p.C94S
c.281G>C
1 paper
NM_019091.4
p.R99G
c.295A>G
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