Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.D1863N

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013275.6
p.D1863N
c.5587G>A
Surrounding Variants
3 papers
NM_013275.6
p.P1860S
c.5578C>T
1 paper
NM_013275.6
p.S1859P
c.5575T>C
1 paper
NM_013275.6
p.P1868L
c.5603C>T
1 paper
NM_013275.6
p.G1856S
c.5566G>A
2 papers
NM_013275.6
p.Y1855delFs
c.5564_5565delAT
1 paper
NM_013275.6
p.Y1855fs
c.5563_5564fs
1 paper
NM_013275.6
p.A1870V
c.5609C>T
1 paper
NM_013275.6
p.D1854_Y1855delFs
c.5560_5563del4
1 paper
NM_013275.6
p.Y1855fs
c.5563_5564fs
1 paper
NM_013275.6
p.D1854fs
c.5560_5561fs
1 paper
NM_013275.6
p.V1872I
c.5614G>A
3 papers
NM_013275.6
p.D1854fs
c.5560_5561fs
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