Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.R1050S

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
1 paper
NM_020715.3
p.R1050S
c.3150G>C
Surrounding Variants
1 paper
NM_020715.3
p.R1050S
c.3150G>T
1 paper
NM_020715.3
p.H1054N
c.3160C>A
1 paper
NM_020715.3
p.D1046N
c.3136G>A
1 paper
NM_020715.3
p.G1058E
c.3173G>A
1 paper
NM_020715.3
p.M1032T
c.3095T>C
1 paper
NM_020715.3
p.E1029V
c.3086A>T
1 paper
NM_020715.3
p.E1029*
c.3085G>T
1 paper
NM_020715.3
p.T1018T
c.3054G>A
1 paper
NM_020715.3
p.G1012fs
c.3034_3035fs
1 paper
NM_020715.3
p.V1011insFs
c.3033dupT
1 paper
NM_020715.3
p.A975G
c.2924C>G
1 paper
NM_020715.3
p.G971R
c.2911G>A
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