Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA5
Variant:p.V690I

PLEKHA5

69 papers

Pfam Domains

WWaa 58–87UCSCWW domain
PHaa 62–159UCSCPH domain
TBCA_PHaa 560–703UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A5

HGNC Alias Symbols

PEPP2; KIAA1686; FLJ10667

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256470.2
p.V690I
c.2068G>A
Surrounding Variants
1 paper
NM_001256470.2
p.P685R
c.2054C>G
2 papers
NM_001256470.2
p.I714L
c.2140A>C
2 papers
NM_001256470.2
p.I714L
c.2140A>T
1 paper
NM_001256470.2
p.E779Q
c.2335G>C
1 paper
NM_001256470.2
p.R809delFs
c.2426_2427delGA
1 paper
NM_001256470.2
p.L811V
c.2431C>G
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