Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.L430delFs

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.L430delFs
c.1289delA
Surrounding Variants
1 paper
NM_020904.3
p.D428_R429delFs
c.1283_1287del5
1 paper
NM_020904.3
p.R424H
c.1271G>A
1 paper
NM_020904.3
p.Q442_E443Splc
c.1326+1G>T
1 paper
NM_020904.3
p.R418M
c.1253G>T
1 paper
NM_020904.3
p.R403Q
c.1208G>A
1 paper
NM_020904.3
p.I385T
c.1154T>C
1 paper
NM_020904.3
p.V447A
c.1340T>C
1 paper
NM_020904.3
p.T450M
c.1349C>T
3 papers
NM_020904.3
p.P337L
c.1010C>T
1 paper
NM_020904.3
p.L333V
c.997C>G
1 paper
NM_020904.3
p.P311H
c.932C>A
1 paper
NM_020904.3
p.G308V
c.923G>T
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