Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S1260*

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
2 papers
NM_013275.6
p.S1260*
c.3779C>A
Surrounding Variants
1 paper
NM_013275.6
p.S1260L
c.3779C>T
1 paper
NM_013275.6
p.K1259fs
c.3775_3776fs
1 paper
NM_013275.6
p.S1254_K1259delFs
c.3760_3776del17
3 papers
NM_013275.6
p.E1258_K1259delFs
c.3774_3775delTC
1 paper
NM_013275.6
p.K1259fs
c.3775_3776fs
1 paper
NM_013275.6
p.E1258fs
c.3772_3773fs
4 papers
NM_013275.6
p.K1257_E1258delFs
c.3770_3773del4
1 paper
NM_013275.6
p.K1262fs
c.3784_3785fs
2 papers
NM_013275.6
p.K1257insFs
c.3771dupA
3 papers
NM_013275.6
p.E1258fs
c.3772_3773fs
19 papers
NM_013275.6
p.K1257delFs
c.3770_3771delTT
1 paper
NM_013275.6
p.K1262fs
c.3784_3785fs
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