Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.P533R

PLEKHA4

60 papers

RefSeq Summary

This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM...

Pfam Domains

PHaa 55–153UCSCPH domain
TBCA_PHaa 359–494UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A4

HGNC Alias Symbol

PEPP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020904.3
p.P533R
c.1598C>G
Surrounding Variants
1 paper
NM_020904.3
p.S531C
c.1591A>T
1 paper
NM_020904.3
p.P536delFs
c.1608delG
1 paper
NM_020904.3
p.E537V
c.1610A>T
1 paper
NM_020904.3
p.E526K
c.1576G>A
1 paper
NM_020904.3
p.A551T
c.1651G>A
2 papers
NM_020904.3
p.S575F
c.1724C>T
1 paper
NM_020904.3
p.S508C
c.1523C>G
1 paper
NM_020904.3
p.P501S
c.1501C>T
1 paper
NM_020904.3
p.R599H
c.1796G>A
1 paper
NM_020904.3
p.R615Q
c.1844G>A
1 paper
NM_020904.3
p.R628H
c.1883G>A
1 paper
NM_020904.3
p.V638I
c.1912G>A
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