Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.G588A

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.G588A
c.1763G>C
Surrounding Variants
1 paper
NM_032139.3
p.I581L
c.1741A>T
1 paper
NM_032139.3
p.I581L
c.1741A>C
2 papers
NM_032139.3
p.L569V
c.1705C>G
1 paper
NM_032139.3
p.K609fs
c.1825_1826fs
1 paper
NM_032139.3
p.S608_K609delFs
c.1824_1827del4
1 paper
NM_032139.3
p.S555L
c.1664C>T
1 paper
NM_032139.3
p.Y551C
c.1652A>G
1 paper
NM_032139.3
p.D543_C544Splc
c.1630-12A>T
1 paper
NM_032139.3
p.S628F
c.1883C>T
1 paper
NM_032139.3
p.S641insFs
c.1923dupC
1 paper
NM_032139.3
p.M654L
c.1960A>T
1 paper
NM_032139.3
p.M654L
c.1960A>C
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