Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.V470A

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.V470A
c.1409T>C
Surrounding Variants
1 paper
NM_020715.3
p.A475T
c.1423G>A
1 paper
NM_020715.3
p.D497N
c.1489G>A
1 paper
NM_020715.3
p.F505L
c.1513T>C
1 paper
NM_020715.3
p.F505L
c.1515C>A
1 paper
NM_020715.3
p.F505L
c.1515C>G
1 paper
NM_020715.3
p.S522R
c.1564A>C
1 paper
NM_020715.3
p.S522R
c.1566C>A
1 paper
NM_020715.3
p.S522R
c.1566C>G
1 paper
NM_020715.3
p.I526T
c.1577T>C
1 paper
NM_020715.3
p.G529Splc
c.1586-7C>T
1 paper
NM_020715.3
p.A542T
c.1624G>A
2 papers
NM_020715.3
p.A542V
c.1625C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."