Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA5
Variant:p.D503H

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
2 papers
NM_001256470.2
p.D503H
c.1507G>C
Surrounding Variants
1 paper
NM_001256470.2
p.L509F
c.1525C>T
1 paper
NM_001256470.2
p.R515C
c.1543C>T
1 paper
NM_001256470.2
p.H486N
c.1456C>A
1 paper
NM_001256470.2
p.S477T
c.1430G>C
1 paper
NM_001256470.2
p.Q455K
c.1363C>A
1 paper
NM_001256470.2
p.S451I
c.1352G>T
1 paper
NM_001256470.2
p.Q560*
c.1678C>T
1 paper
NM_001256470.2
p.H590R
c.1769A>G
1 paper
NM_001256470.2
p.H591Y
c.1771C>T
1 paper
NM_001256470.2
p.V597M
c.1789G>A
1 paper
NM_001256470.2
p.R600T
c.1799G>C
1 paper
NM_001256470.2
p.T608N
c.1823C>A
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