Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.K949Splc

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.K949Splc
c.2847-75C>T
Surrounding Variants
1 paper
NM_032139.3
p.E968Q
c.2902G>C
1 paper
NM_032139.3
p.L981delFs
c.2942_2943delCA
1 paper
NM_032139.3
p.R982K
c.2945G>A
1 paper
NM_032139.3
p.Q989*
c.2965C>T
2 papers
NM_032139.3
p.N999Y
c.2995A>T
1 paper
NM_032139.3
p.G1014G
c.3042A>G
1 paper
NM_032139.3
p.P1033L
c.3098C>T
1 paper
NM_032139.3
p.K922delFs
c.2766delT
1 paper
NM_032139.3
p.K922fs
c.2764_2765fs
1 paper
NM_032139.3
p.R920K
c.2759G>A
1 paper
NM_032139.3
p.A907delFs
c.2720_2721delAG
1 paper
NM_032139.3
p.A907fs
c.2719_2720fs
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