Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.S655Splc

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.S655Splc
c.1965-4C>T
Surrounding Variants
1 paper
NM_020904.3
p.R670Q
c.2009G>A
1 paper
NM_020904.3
p.R689T
c.2066G>C
2 papers
NM_020904.3
p.R715C
c.2143C>T
1 paper
NM_020904.3
p.S723Y
c.2168C>A
1 paper
NM_020904.3
p.R737G
c.2209C>G
1 paper
NM_020904.3
p.P759S
c.2275C>T
1 paper
NM_020904.3
p.P759L
c.2276C>T
1 paper
NM_020904.3
p.D764E
c.2292C>G
1 paper
NM_020904.3
p.D764E
c.2292C>A
2 papers
NM_020904.3
p.P769delFs
c.2306delG
1 paper
NM_020904.3
p.S655Splc
c.1964+112T>C
1 paper
NM_020904.3
p.S641L
c.1922C>T
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