Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA5
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_001256470.2
p.M1I
c.3G>A
1 paper
NM_001256470.2
p.M1I
c.3G>C
1 paper
NM_001256470.2
p.M1I
c.3G>T
1 paper
NM_001256470.2
p.M1insFs
c.1_2ins4
1 paper
NM_001256470.2
p.E8Q
c.22G>C
1 paper
NM_001256470.2
p.E45A
c.134A>C
1 paper
NM_001256470.2
p.E45G
c.134A>G
1 paper
NM_001256470.2
p.T49S
c.145A>T
1 paper
NM_001256470.2
p.T49S
c.146C>G
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