Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.H735R

PLEKHH1

87 papers

Pfam Domains

PHaa 579–672UCSCPH domain
MyTH4aa 880–984UCSCMyTH4 domain
RA_2aa 995–1102UCSCRA like domain
FERM_Maa 1101–1230UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H1

HGNC Alias Symbol

KIAA1200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020715.3
p.H735R
c.2204A>G
Surrounding Variants
1 paper
NM_020715.3
p.S745*
c.2234C>A
1 paper
NM_020715.3
p.S745*
c.2234C>G
1 paper
NM_020715.3
p.R724Q
c.2171G>A
1 paper
NM_020715.3
p.H771Q
c.2313C>A
1 paper
NM_020715.3
p.H771Q
c.2313C>G
1 paper
NM_020715.3
p.R718W
c.2152C>T
1 paper
NM_020715.3
p.V793V
c.2379G>A
1 paper
NM_020715.3
p.A795A
c.2385A>G
1 paper
NM_020715.3
p.P823P
c.2469G>A
1 paper
NM_020715.3
p.G692S
c.2074G>A
1 paper
NM_020715.3
p.D835H
c.2503G>C
1 paper
NM_020715.3
p.Y838*
c.2514C>A
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