Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.S260S

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.S260S
c.780A>C
Surrounding Variants
1 paper
NM_020904.3
p.S260_G261insFs
c.780_781insC
1 paper
NM_020904.3
p.P281_L282del1
c.842_844delGAG
1 paper
NM_020904.3
p.P297L
c.890C>T
1 paper
NM_020904.3
p.P297P
c.891C>T
1 paper
NM_020904.3
p.R298insFs
c.892dupC
1 paper
NM_020904.3
p.G308V
c.923G>T
1 paper
NM_020904.3
p.P311H
c.932C>A
1 paper
NM_020904.3
p.R190H
c.569G>A
1 paper
NM_020904.3
p.G179V
c.536G>T
1 paper
NM_020904.3
p.P168L
c.503C>T
1 paper
NM_020904.3
p.E139Q
c.415G>C
2 papers
NM_020904.3
p.T137A
c.409A>G
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