Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S563fs

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.S563fs
c.1687_1688fs
Surrounding Variants
1 paper
NM_013275.6
p.S563T
c.1688G>C
1 paper
NM_013275.6
p.S563fs
c.1687_1688fs
1 paper
NM_013275.6
p.V562delFs
c.1686delG
1 paper
NM_013275.6
p.E561*
c.1681G>T
3 papers
NM_013275.6
p.S560*
c.1679C>G
3 papers
NM_013275.6
p.S560*
c.1679C>A
2 papers
NM_013275.6
p.W559*
c.1677G>A
2 papers
NM_013275.6
p.W559*
c.1676G>A
2 papers
NM_013275.6
p.P557A
c.1669C>G
3 papers
NM_013275.6
p.T571fs
c.1711_1712fs
1 paper
NM_013275.6
p.W551_S556del0
c.1652_1666del15
1 paper
NM_013275.6
p.T571R
c.1712C>G
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