Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.R5*

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
2 papers
NM_020904.3
p.R5*
c.13C>T
Surrounding Variants
4 papers
NM_020904.3
p.I37V
c.109A>G
1 paper
NM_020904.3
p.N52I
c.155A>T
1 paper
NM_020904.3
p.R75H
c.224G>A
1 paper
NM_020904.3
p.R75_H82ins2
c.225_245dup21
1 paper
NM_020904.3
p.L101_P108delFs
c.302_323del22
1 paper
NM_020904.3
p.P111Q
c.332C>A
1 paper
NM_020904.3
p.R118H
c.353G>A
2 papers
NM_020904.3
p.T137A
c.409A>G
1 paper
NM_020904.3
p.E139Q
c.415G>C
1 paper
NM_020904.3
p.P168L
c.503C>T
1 paper
NM_020904.3
p.G179V
c.536G>T
1 paper
NM_020904.3
p.R190H
c.569G>A
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