Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K1650insFs

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.K1650insFs
c.4948_4949insTA
Surrounding Variants
1 paper
NM_013275.6
p.K1650fs
c.4948_4949fs
1 paper
NM_013275.6
p.K1650fs
c.4948_4949fs
1 paper
NM_013275.6
p.K1652R
c.4955A>G
1 paper
NM_013275.6
p.K1653M
c.4958A>T
1 paper
NM_013275.6
p.L1645fs
c.4933_4934fs
1 paper
NM_013275.6
p.L1645P
c.4934T>C
3 papers
NM_013275.6
p.L1645delFs
c.4933delG
1 paper
NM_013275.6
p.L1645fs
c.4933_4934fs
4 papers
NM_013275.6
p.K1655fs
c.4963_4964fs
1 paper
NM_013275.6
p.K1655fs
c.4963_4964fs
1 paper
NM_013275.6
p.K1655delFs
c.4965delT
4 papers
NM_013275.6
p.K1655delFs
c.4964_4965delTT
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