Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.H796Q

PLEKHA7

96 papers

Pfam Domains

PHaa 165–282UCSCPH domain
TBCA_PHaa 685–822UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A7

HGNC Alias Symbol

DKFZp686M22243

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001329630.2
p.H796Q
c.2388C>A
Surrounding Variants
1 paper
NM_001329630.2
p.H796Q
c.2388C>G
4 papers
NM_001329630.2
p.F802fs
c.2404_2405fs
2 papers
NM_001329630.2
p.F802delFs
c.2405delA
1 paper
NM_001329630.2
p.F802delFs
c.2406delG
1 paper
NM_001329630.2
p.N776D
c.2326A>G
1 paper
NM_001329630.2
p.D756N
c.2266G>A
1 paper
NM_001329630.2
p.E709K
c.2125G>A
2 papers
NM_001329630.2
p.V693I
c.2077G>A
1 paper
NM_001329630.2
p.K685N
c.2055G>T
1 paper
NM_001329630.2
p.K685N
c.2055G>C
1 paper
NM_001329630.2
p.E816*
c.2446G>T
1 paper
NM_001329630.2
p.N828S
c.2483A>G
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