Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA2
Variant:p.M412fs

PLEKHA2

33 papers

Pfam Domains

PHaa 5–63UCSCPH domain
PHaa 8–113UCSCPH domain
PHaa 149–248UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A2

HGNC Alias Symbol

TAPP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021623.2
p.M412fs
c.1234_1235fs
Surrounding Variants
1 paper
NM_021623.2
p.M412delFs
c.1234delA
1 paper
NM_021623.2
p.Q404R
c.1211A>G
5 papers
NM_021623.2
p.A388fs
c.1162_1163fs
4 papers
NM_021623.2
p.A388delFs
c.1163delC
1 paper
NM_021623.2
p.T380M
c.1139C>T
1 paper
NM_021623.2
p.T358I
c.1073C>T
1 paper
NM_021623.2
p.L338F
c.1014G>C
1 paper
NM_021623.2
p.L338F
c.1014G>T
1 paper
NM_021623.2
p.R335W
c.1003C>T
1 paper
NM_021623.2
p.T307M
c.920C>T
1 paper
NM_021623.2
p.K291*
c.871A>T
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