Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.T50I

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.T50I
c.149C>T
Surrounding Variants
1 paper
NM_032139.3
p.V92E
c.275T>A
1 paper
NM_032139.3
p.E98A
c.293A>C
1 paper
NM_032139.3
p.T99A
c.295A>G
1 paper
NM_032139.3
p.F100S
c.299T>C
1 paper
NM_032139.3
p.E106V
c.317A>T
1 paper
NM_032139.3
p.K119T
c.356A>C
1 paper
NM_032139.3
p.S123A
c.367T>G
1 paper
NM_032139.3
p.I138T
c.413T>C
1 paper
NM_032139.3
p.R147K
c.440G>A
1 paper
NM_032139.3
p.T162A
c.484A>G
1 paper
NM_032139.3
p.R164insFs
c.490dupC
1 paper
NM_032139.3
p.R164R
c.492A>G
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