Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.Y1180D

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.Y1180D
c.3538T>G
Surrounding Variants
2 papers
NM_020715.3
p.R1179C
c.3535C>T
1 paper
NM_020715.3
p.R1213H
c.3638G>A
1 paper
NM_020715.3
p.E1135Q
c.3403G>C
1 paper
NM_020715.3
p.L1134F
c.3400C>T
1 paper
NM_020715.3
p.F1126V
c.3376T>G
2 papers
NM_020715.3
p.R1125G
c.3373A>G
1 paper
NM_020715.3
p.D1258Y
c.3772G>T
1 paper
NM_020715.3
p.K1311Q
c.3931A>C
1 paper
NM_020715.3
p.R1086H
c.3257G>A
1 paper
NM_020715.3
p.F1317C
c.3950T>G
4 papers
NM_020715.3
p.R1348*
c.4042C>T
1 paper
NM_020715.3
p.T1362M
c.4085C>T
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