Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.Q201*

ANKRD27

106 papers

Pfam Domains

VPS9aa 264–367UCSCVacuolar sorting protein 9 (VPS9) domain
Ank_2aa 401–526UCSCAnkyrin repeats (3 copies)
Ank_2aa 510–595UCSCAnkyrin repeats (3 copies)
Ank_2aa 719–807UCSCAnkyrin repeats (3 copies)
Ank_2aa 805–873UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 27

HGNC Alias Symbols

FLJ00040; DKFZp434L0718; VARP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032139.3
p.Q201*
c.601C>T
Surrounding Variants
1 paper
NM_032139.3
p.M205delFs
c.614delA
1 paper
NM_032139.3
p.L195_K196Splc
c.585+1G>A
1 paper
NM_032139.3
p.Y215D
c.643T>G
1 paper
NM_032139.3
p.L223L
c.669G>A
1 paper
NM_032139.3
p.A180V
c.539C>T
1 paper
NM_032139.3
p.H174Y
c.520C>T
1 paper
NM_032139.3
p.R172C
c.514C>T
1 paper
NM_032139.3
p.K169*
c.505A>T
1 paper
NM_032139.3
p.C166C
c.498C>T
1 paper
NM_032139.3
p.R164R
c.492A>G
1 paper
NM_032139.3
p.R164fs
c.490_491fs
1 paper
NM_032139.3
p.R164insFs
c.490dupC
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