Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y2438_F2439insFs

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.Y2438_F2439insFs
c.7314_7315insCT
Surrounding Variants
1 paper
NM_013275.6
p.Y2438_F2439insFs
c.7314_7315ins4
1 paper
NM_013275.6
p.F2439fs
c.7315_7316fs
1 paper
NM_013275.6
p.F2439fs
c.7315_7316fs
1 paper
NM_013275.6
p.Y2441*
c.7323C>G
1 paper
NM_013275.6
p.Y2441*
c.7323C>A
4 papers
NM_013275.6
p.Q2443*
c.7327C>T
1 paper
NM_013275.6
p.A2435fs
c.7303_7304fs
1 paper
NM_013275.6
p.A2435delFs
c.7303delC
1 paper
NM_013275.6
p.A2435fs
c.7303_7304fs
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.I2427T
c.7280T>C
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