Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.N1217S

PLEKHH2

102 papers

Pfam Domains

PHaa 704–797UCSCPH domain
MyTH4aa 1003–1108UCSCMyTH4 domain
RA_2aa 1119–1221UCSCRA like domain
FERM_Maa 1227–1354UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H2

HGNC Alias Symbols

KIAA2028; PLEKHH1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_172069.4
p.N1217S
c.3650A>G
Surrounding Variants
1 paper
NM_172069.4
p.R1218Splc
c.3653+113G>C
1 paper
NM_172069.4
p.D1175V
c.3524A>T
1 paper
NM_172069.4
p.A1160V
c.3479C>T
1 paper
NM_172069.4
p.G1136C
c.3406G>T
1 paper
NM_172069.4
p.V1134delFs
c.3402delA
1 paper
NM_172069.4
p.G1130W
c.3388G>T
1 paper
NM_172069.4
p.M1128V
c.3382A>G
1 paper
NM_172069.4
p.H1116Q
c.3348C>A
1 paper
NM_172069.4
p.H1116Q
c.3348C>G
1 paper
NM_172069.4
p.R1069K
c.3206G>A
1 paper
NM_172069.4
p.V1050I
c.3148G>A
1 paper
NM_172069.4
p.L1045F
c.3133C>T
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