Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.R1125G

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.R1125G
c.3373A>G
Surrounding Variants
1 paper
NM_020715.3
p.F1126V
c.3376T>G
1 paper
NM_020715.3
p.L1134F
c.3400C>T
1 paper
NM_020715.3
p.E1135Q
c.3403G>C
1 paper
NM_020715.3
p.R1086H
c.3257G>A
2 papers
NM_020715.3
p.R1179C
c.3535C>T
1 paper
NM_020715.3
p.Y1180D
c.3538T>G
1 paper
NM_020715.3
p.R1213H
c.3638G>A
1 paper
NM_020715.3
p.G1058E
c.3173G>A
1 paper
NM_020715.3
p.H1054N
c.3160C>A
1 paper
NM_020715.3
p.R1050S
c.3150G>C
1 paper
NM_020715.3
p.R1050S
c.3150G>T
1 paper
NM_020715.3
p.D1046N
c.3136G>A
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