Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K2423R

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.K2423R
c.7268A>G
Surrounding Variants
1 paper
NM_013275.6
p.K2423*
c.7267A>T
1 paper
NM_013275.6
p.A2421P
c.7261G>C
1 paper
NM_013275.6
p.A2426T
c.7276G>A
1 paper
NM_013275.6
p.I2427T
c.7280T>C
1 paper
NM_013275.6
p.Y2430*
c.7290C>G
1 paper
NM_013275.6
p.Y2430*
c.7290C>A
1 paper
NM_013275.6
p.L2415fs
c.7243_7244fs
1 paper
NM_013275.6
p.T2414T
c.7242G>A
15 papers
NM_013275.6
p.R2408_Q2412del5
c.7222_7235del15
2 papers
NM_013275.6
p.Q2413*
c.7237C>T
6 papers
NM_013275.6
p.E2409_Q2412del4
c.7225_7235del12
2 papers
NM_013275.6
p.Q2412*
c.7234C>T
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