Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K696N

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.K696N
c.2088A>T
Surrounding Variants
1 paper
NM_013275.6
p.K696fs
c.2086_2087fs
2 papers
NM_013275.6
p.E697*
c.2089G>T
1 paper
NM_013275.6
p.E697fs
c.2089_2090fs
3 papers
NM_013275.6
p.E698fs
c.2092_2093fs
1 paper
NM_013275.6
p.K695E
c.2083A>G
1 paper
NM_013275.6
p.E698fs
c.2092_2093fs
1 paper
NM_013275.6
p.K696_E698delFs
c.2087_2093del7
2 papers
NM_013275.6
p.E698_K699delFs
c.2092_2096del5
1 paper
NM_013275.6
p.L700fs
c.2098_2099fs
1 paper
NM_013275.6
p.D692fs
c.2074_2075fs
1 paper
NM_013275.6
p.S701fs
c.2101_2102fs
2 papers
NM_013275.6
p.D692G
c.2075A>G
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