Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K627insFs

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.K627insFs
c.1879dupA
Surrounding Variants
1 paper
NM_013275.6
p.K627T
c.1880A>C
1 paper
NM_013275.6
p.E625D
c.1875G>T
1 paper
NM_013275.6
p.E625D
c.1875G>C
1 paper
NM_013275.6
p.K631fs
c.1891_1892fs
2 papers
NM_013275.6
p.K631fs
c.1891_1892fs
4 papers
NM_013275.6
p.H632fs
c.1894_1895fs
3 papers
NM_013275.6
p.K631insFs
c.1893dupA
3 papers
NM_013275.6
p.K631delFs
c.1893delT
1 paper
NM_013275.6
p.H632fs
c.1894_1895fs
1 paper
NM_013275.6
p.D623N
c.1867G>A
2 papers
NM_013275.6
p.H632_K633delFs
c.1896_1897delTA
1 paper
NM_013275.6
p.T634fs
c.1900_1901fs
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