Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.H422L

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.H422L
c.1265A>T
Surrounding Variants
1 paper
NM_032139.3
p.C431S
c.1291T>A
1 paper
NM_032139.3
p.V413A
c.1238T>C
1 paper
NM_032139.3
p.C431S
c.1292G>C
1 paper
NM_032139.3
p.E412K
c.1234G>A
1 paper
NM_032139.3
p.L434delins
c.1300_1301delinsTA
1 paper
NM_032139.3
p.C435S
c.1303T>A
1 paper
NM_032139.3
p.C435S
c.1304G>C
1 paper
NM_032139.3
p.G408D
c.1223G>A
1 paper
NM_032139.3
p.C437S
c.1309T>A
1 paper
NM_032139.3
p.C437S
c.1310G>C
1 paper
NM_032139.3
p.S407L
c.1220C>T
1 paper
NM_032139.3
p.C440S
c.1318T>A
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