Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH3
Variant:p.C13_R14del1

PLEKHH3

40 papers

Pfam Domains

MyTH4aa 287–397UCSCMyTH4 domain
RA_2aa 402–497UCSCRA like domain
FERM_Maa 505–664UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H3

HGNC Alias Symbol

FLJ21019

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024927.5
p.C13_R14del1
c.38_40delGGC
Surrounding Variants
1 paper
NM_024927.5
p.G33_E35ins1
c.98_103dup6
1 paper
NM_024927.5
p.D38_E40del0
c.114_119del6
1 paper
NM_024927.5
p.D38_E40del3
c.112_119del9
1 paper
NM_024927.5
p.D38_T41delFs
c.113_122del10
1 paper
NM_024927.5
p.P64T
c.190C>A
1 paper
NM_024927.5
p.P64fs
c.190_191fs
1 paper
NM_024927.5
p.P64delFs
c.191delG
1 paper
NM_024927.5
p.I96T
c.287T>C
1 paper
NM_024927.5
p.Y103F
c.308A>T
1 paper
NM_024927.5
p.R104Q
c.311G>A
1 paper
NM_024927.5
p.W114_R119del6
c.340_356del18
1 paper
NM_024927.5
p.P113_F122del10
c.337_365del30
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