Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.R950Splc

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.R950Splc
c.2850-10G>T
Surrounding Variants
1 paper
NM_020715.3
p.G954D
c.2861G>A
1 paper
NM_020715.3
p.R962W
c.2884C>T
1 paper
NM_020715.3
p.R966W
c.2896C>T
1 paper
NM_020715.3
p.G971R
c.2911G>A
1 paper
NM_020715.3
p.G971R
c.2911G>C
1 paper
NM_020715.3
p.A975G
c.2924C>G
1 paper
NM_020715.3
p.L924fs
c.2770_2771fs
1 paper
NM_020715.3
p.L924delFs
c.2770_2771delCT
1 paper
NM_020715.3
p.L922L
c.2766C>G
1 paper
NM_020715.3
p.V1011insFs
c.3033dupT
1 paper
NM_020715.3
p.G1012fs
c.3034_3035fs
1 paper
NM_020715.3
p.T1018T
c.3054G>A
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